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Gene: Xirp2 MGI:2685198

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... OMIM:610198
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... OMIM:613694
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Atrial Standstill 1
Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat... OMIM:108770
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Knee flexion contracture, Elbow flexion contracture, Achilles tendon contra... OMIM:310300
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 27
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... OMIM:618052
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... ORPHA:99106
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... OMIM:613697
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... OMIM:614954
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Nemaline Myopathy 11, Autosomal Recessive
Cardiomyopathy, Type 1 muscle fiber predominance, Nemaline bodies, Waddling gait, Scapular wingin... OMIM:617336
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Attrv30M Amyloidosis
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Gait disturban... ORPHA:98912
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Leth... ORPHA:1329
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Nathalie Syndrome
Skeletal muscle atrophy, Growth delay, Abnormal EKG OMIM:255990
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Elevated hepatic transaminase, Pallor, Failure to thrive, Hypertrophic ca... OMIM:613561
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... OMIM:600858
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... ORPHA:98855
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Cirrhosis, Left ventricular diastolic dysfunction, Third hear... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... ORPHA:439
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Small for gestational age, Pericardial effusion,... ORPHA:26793
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... OMIM:212138
Neonatal Lupus Erythematosus
Hepatic failure, Abnormality of the liver, Elevated hepatic transaminase, Dilated cardiomyopathy,... ORPHA:398124
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98853
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98863
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Short stature, Cardiac arrest, Congesti... ORPHA:49827
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb muscle weakness, Generalized amyotrophy, Abnormal EKG, Progressive gait ataxia, Lower ... ORPHA:1177
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Li... ORPHA:90064
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Right bundle branch block, Left posterior fascicular block, Syncope, Left a... OMIM:113900
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 31
Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Kearns-Sayre Syndrome
Third degree atrioventricular block, Skeletal muscle atrophy, Ataxia, Ragged-red muscle fibers ORPHA:480
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... ORPHA:276575
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... ORPHA:85451
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated... OMIM:255160
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Pallor, Hypertrophic ca... ORPHA:276580
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... ORPHA:75565
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Diaphragmatic eventration, Generalized amyotrophy, Elevated hep... ORPHA:66634
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic necrosis, Elevated hepatic transaminase,... ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Joint contracture, Generalized limb muscle atrophy, Prolonged QT interval, Hy... OMIM:615351
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Ataxia, Left ventricular noncompaction OMIM:615917
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Cyclic Vomiting Syndrome
Ataxia, Pallor, Growth delay, Lethargy, Cardiomyopathy OMIM:500007
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Holt-Oram Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... ORPHA:392
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... ORPHA:216694
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Failure to thrive, Growth delay, Atrioventricular block, Joint contracture of the... OMIM:614407
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Flexion contracture, Tip-toe gait, Abnormal EKG, Calf muscle hypertroph... OMIM:310200
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Short stature, Ventricu... ORPHA:37553
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... OMIM:615616
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... ORPHA:330001
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... ORPHA:137675
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Truncal ataxia, Dilat... OMIM:252011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... ORPHA:263297
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Congenital-Onset Steinert Myotonic Dystrophy
Patent ductus arteriosus, Decreased body weight, Abnormal cardiac septum morphology, Bundle branc... ORPHA:589821
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... ORPHA:45452
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Cardiomegaly, Tip-toe gait, Reduced left ventricular ejection fraction... ORPHA:268
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth ret... OMIM:615440
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Failure to thrive, Muscular ventricular septal defect, Inability to walk OMIM:620071
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Kearns-Sayre Syndrome
Third degree atrioventricular block, Short stature, Ataxia, Arrhythmia, Ragged-red muscle fibers,... OMIM:530000
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Elevated circulating alanine aminotransferase concent... ORPHA:308552
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Skeletal myopathy, Weight loss, Left ventricular hypertrophy, Noncompac... ORPHA:3208
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... OMIM:615474
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Right bundle branch block, Limb-girdle muscular dystrophy, Inability to walk, Calf muscle hypertr... ORPHA:206559
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Gait imbalance, Weakness of facial musculature, Loss of ambulation, Skeletal musc... ORPHA:329336
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Short stature, Truncal ataxia, Cachexia, Skeletal mus... OMIM:312750
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Splenomegaly, Flexion contracture, Centrally nucl... OMIM:613327
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Inability to walk, Truncal atax... OMIM:620066
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Perimembranous ventricular septal defect, Left-to-right shunt, Camptoda... ORPHA:363444
Al Amyloidosis
Abnormality of the liver, Weight loss, Abnormal EKG, Reduced left ventricular ejection fraction, ... ORPHA:85443
Gitelman Syndrome
Abnormal T-wave, Rhabdomyolysis, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Gait ataxia, Torsade de pointes, Rhabdomyolysis, Cardiac arrest, Gait disturbance, Elevated hepat... OMIM:616878
Drug-Induced Lupus Erythematosus
Pericarditis, Prolonged QTc interval, Petechiae, Pericardial effusion ORPHA:231111
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... ORPHA:3093
Rheumatic Fever
Endocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve morphol... ORPHA:3099
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Congestive heart failure, Arrhythmia, Abnorm... ORPHA:1055
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Hypertension... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Small for gestational age, Camptodactyly, Muscular vent... OMIM:618804
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Polymyositis
Abnormal atrioventricular conduction, Weight loss, Abnormal mitral valve morphology, Abnormal mus... ORPHA:732
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Friedreich Ataxia
Gait ataxia, Abnormal EKG, Decreased pyruvate carboxylase activity, Limb ataxia, Congestive heart... OMIM:229300
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Bicuspid aortic valve, Failure to thrive, Ventricular e... OMIM:616201
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Short stature, Heart block ORPHA:1964
American Trypanosomiasis
Congestive heart failure, Pallor, Hepatomegaly, Arrhythmia, Myocarditis, Splenomegaly, Cardiomyop... ORPHA:3386
Beta-Thalassemia
Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Splenom... ORPHA:848
Idiopathic Pulmonary Hemosiderosis
Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Failure to thrive, Hepatom... ORPHA:99931
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Syncope, Large for gestational age, Pallor, Palpitations, Hepatomegaly... ORPHA:324575
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... OMIM:600309
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Short stature OMIM:620062
Scapuloperoneal Myopathy, X-Linked Dominant
Knee flexion contracture, Forearm supination contracture, Scapuloperoneal myopathy, Right bundle ... OMIM:300695
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro... ORPHA:371428
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Heart Block, Congenital
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... OMIM:234700
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Steinert Myotonic Dystrophy
Inability to walk, Elevated hepatic transaminase, Facial diplegia, Distal amyotrophy, Falls, Prol... ORPHA:273
Atrial Septal Defect 1
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... OMIM:108800
Congenital Sialidosis Type 2
Telangiectasia, Petechiae, Abnormal EKG, Ataxia, Hepatosplenomegaly, Dysmetria, Abnormal heart mo... ORPHA:93400
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Failure to thrive, Tetralogy of Fallot,... OMIM:601127
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Pericarditis, Hepatomegaly, Splenomegaly ORPHA:163596
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Elevated hepatic transaminase, Ataxia, EMG: myopathic abnormalities, Prolonged QT i... ORPHA:480864
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy, Gait disturbance, Pallor ORPHA:79283
Cln3 Disease
Shuffling gait, T-wave inversion, Left ventricular hypertrophy, Ataxia, Loss of ambulation, Brady... ORPHA:228346
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Glycogen Storage Disease Ii
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Firm muscles, Macrogloss... OMIM:232300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arrhythmia, Decreased liver fu... OMIM:617021
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia, Lethargy, Tachycardia, Increased body weight ORPHA:276608
Gitelman Syndrome
Hypotension, Rhabdomyolysis, Ataxia, Failure to thrive, Prolonged QT interval, Ventricular tachyc... OMIM:263800
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Small for gestational age, Bicuspid ao... OMIM:613355
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Myotonic Dystrophy 1
Facial diplegia, Atrial flutter, First degree atrioventricular block, Cholelithiasis, Atrial fibr... OMIM:160900
Microcephaly-Cardiomyopathy Syndrome
Intrauterine growth retardation, Dilated cardiomyopathy, Short stature, Ventricular septal defect ORPHA:2515
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, Pericardial effusion, ST segment depression, Congestive heart fail... OMIM:261740
Fabry Disease
Mucosal telangiectasiae, Short stature, Transient ischemic attack, Bundle branch block, Telangiec... ORPHA:324
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Thyrotoxic Periodic Paralysis
Impaired myocardial contractility, Rhabdomyolysis, Weight loss, Lower limb muscle weakness, Abnor... ORPHA:79102
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Short stature, Torticollis, Atrial septal de... OMIM:249670
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hypop... ORPHA:231226
Dextrocardia
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Situs inve... ORPHA:1666
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Patent ductus arter... ORPHA:980
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Atrioventricular canal defect, Elevated circulating alanine amin... OMIM:619573
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Hypertension, Intra... OMIM:616733
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Postnatal growth retardation, Supraventricular arrhythmia, Syncope... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... OMIM:115195
Hereditary Spherocytosis
Restrictive cardiomyopathy, Jaundice, Skin ulcer, Ataxia, Pallor, Growth delay, Hepatomegaly, Cho... ORPHA:822
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Andersen Cardiodysrhythmic Periodic Paralysis
Short stature, Prominent U wave, Syncope, Prolonged QT interval, Palpitations, Scapular winging, ... OMIM:170390
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Short stature, Wolff-Parkinson-White syndrome, Hypertension, Ventricul... OMIM:614947
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Short stature, Limb hypertonia, Pericardial effusion, Atrial septal defect, Multiple muscular ven... OMIM:620070
Cog7-Cdg
Small for gestational age, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... ORPHA:79333
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral stenosis, Mi... OMIM:212093
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hypop... ORPHA:231214
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Spontaneous Periodic Hypothermia
Pallor, Gait disturbance, Ataxia, Arrhythmia ORPHA:29822
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelic arm shortening, Disproportionate short stature, Atrioventricular block, Arrhythmia, My... ORPHA:93317
Sotos Syndrome
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Muscular ventricular s... OMIM:117550
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis ORPHA:94090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular outflow tract obstruction, Flexion contracture, Inability to walk, Hypertrophic ... ORPHA:365
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Rhabdomyolysis, Ventricular arrhy... ORPHA:90068
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia ORPHA:871
Cerebral Creatine Deficiency Syndrome 1
Short stature, Gait disturbance, Failure to thrive, Prolonged QT interval, Broad-based gait OMIM:300352
Alg12-Cdg
Patent ductus arteriosus, Patent foramen ovale, Camptodactyly, Elevated hepatic transaminase, Abn... ORPHA:79324
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Pallor ORPHA:71518
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hepatic failure, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse ... ORPHA:466650
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Weight loss, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated cardio... ORPHA:20
Meier-Gorlin Syndrome 7
Decreased body weight, Ventricular septal defect, Short stature, Atrial septal defect, Heart bloc... OMIM:617063
Refsum Disease
Ataxia, Heart block, Dry skin, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy ORPHA:773
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Flexion contracture, Camptodactyly, Prolonged QT interval, Postn... OMIM:620029
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... ORPHA:94080
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ethylene Glycol Poisoning
Hypotension, Renal tubular epithelial necrosis, Hypertension, Congestive heart failure, Ataxia, S... ORPHA:31826
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Atrial septal defect, Ataxia, Situs inversus totalis, A... OMIM:249270
17Q24.2 Microdeletion Syndrome
Patent ductus arteriosus after birth at term, Prolonged QT interval, Truncal obesity, Failure to ... ORPHA:529962
Leopard Syndrome 1
Subvalvular aortic stenosis, Third degree atrioventricular block, Short stature, Bundle branch bl... OMIM:151100
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Evans Syndrome
Petechiae, Jaundice, Syncope, Pallor, Epistaxis, Lethargy ORPHA:1959
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Large for gestational age, Pallor, Elevated circulating alkaline p... ORPHA:263455
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Congenital Gerbode Defect
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... ORPHA:99095
Mucopolysaccharidosis Type 3
Flexion contracture, Reduced left ventricular ejection fraction, Abnormal mitral valve morphology... ORPHA:581
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Pallor ORPHA:46532
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Spasticity of facial muscles, Spastic gait, Pallor OMIM:606353
Noonan Syndrome 8
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Short stature, Left... OMIM:615355
Feingold Syndrome Type 1
Patent ductus arteriosus, Short stature, Abnormal heart morphology, Multiple muscular ventricular... ORPHA:391641
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Imperforate tricuspid valve, Patent ductus arteriosus, Right bundle branch ... ORPHA:1880
Atrophoderma Vermiculata
Erythema, Heart block ORPHA:79100
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal... ORPHA:373
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Calf muscle hypertr... ORPHA:254361
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Choreoathetosis, Ataxia, Pallor, Failure to thrive, Facial hypotonia, Cardiac co... ORPHA:2131
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Short stature OMIM:619227
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Short stature, Calcinosis ORPHA:94089
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Decreased body weight, Ventricular septal defect, Short stature, Atrial sep... OMIM:609053
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber... OMIM:619424
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short stature, Atrial septal defect, Failure to thrive, Hypertrophic c... OMIM:615279
Dpagt1-Cdg
Flexion contracture, Akinesia, Inability to walk, Camptodactyly, Intracranial hemorrhage, Ataxia,... ORPHA:86309
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Knee flexion contracture, Patent foramen ovale, Flexion contracture, Hip contracture, Ventricular... OMIM:210710
Roifman Syndrome
Splenomegaly, Hip contracture, Ventricular septal defect, Short stature, Noncompaction cardiomyop... OMIM:616651
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Scimitar Syndrome
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Patent ductus art... ORPHA:185
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Mitral regurgitation, Aortic valve stenosis, Pulmonic s... ORPHA:3449
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... ORPHA:97292
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter OMIM:614096
Friedreich Ataxia 2
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Decreased pyruvate carboxylase activity, Co... OMIM:601992
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... ORPHA:99413
Turner Syndrome
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... ORPHA:881
Mosaic Monosomy X
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... ORPHA:99228
Monosomy X
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Short stature, Bicuspid aortic valve, Elevated he... ORPHA:99226
Optic Atrophy 1
Ataxia, Pallor OMIM:165500
Cardiospondylocarpofacial Syndrome
Patent foramen ovale, Ventricular septal defect, Short stature, Atrial septal defect, Failure to ... OMIM:157800
Primary Myelofibrosis
Petechiae, Cachexia, Purpura, Hepatosplenomegaly, Pallor, Ecchymosis, Hepatomegaly, Increased cir... ORPHA:824
45,X/46,Xy Mixed Gonadal Dysgenesis
Short stature, Bicuspid aortic valve, Prolonged QT interval, Delayed puberty, Obesity, Tachycardi... ORPHA:1772
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Short stature, Inability to walk, Truncal ataxia,... OMIM:617675
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Obesity, Short stature, Calcinosis ORPHA:79444
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... OMIM:620135
Ogden Syndrome
Ventricular septal defect, Shuffling gait, Cutis laxa, Cardiogenic shock, Torticollis, Arrhythmia... ORPHA:276432
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Pallor, Failure to thrive, Delayed puberty, Growth delay, Scapul... OMIM:600462
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... ORPHA:99104
Diamond-Blackfan Anemia 6
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolap... OMIM:612561
Idiopathic Hypereosinophilic Syndrome
Pulmonary embolism, Pancreatitis, Transient ischemic attack, Supraventricular arrhythmia, Raynaud... ORPHA:3260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Renal tubular epithelial necrosi... ORPHA:228308
Von Hippel-Lindau Disease
Pancreatic cysts, Neoplasm of the pancreas, Hypertension, Pallor, Myocardial infarction, Abnormal... ORPHA:892
Pseudohypoparathyroidism Type 1A
Short stature, Calcinosis, Choreoathetosis, Hypertension, Prolonged QT interval, Obesity ORPHA:79443
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Hepatitis, Jaundice, Peric... ORPHA:509
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Elevated circulating alanine aminotransfer... OMIM:614921
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... ORPHA:2299
Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Congestive heart failure, Arrhythmia ORPHA:98375
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Foot joint contracture, Infancy onset short-trunk short stature, Ventricular sep... ORPHA:444072
Peripheral Cone Dystrophy
Pallor OMIM:609021
Transaldolase Deficiency
Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Telangiectasia, Hepatic fibrosis, V... OMIM:606003
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Elbow flexion contracture, Hep... OMIM:619503
Scorpion Envenomation
Rhabdomyolysis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST se... ORPHA:466677
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Palmoplantar erythema, Truncus arteriosus, Perimembranous ventricular s... OMIM:612474
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, S... ORPHA:231222
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... OMIM:615344
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Pallor ORPHA:90037
Sepsis In Premature Infants
Hypotension, Splenomegaly, Decreased body weight, Petechiae, Small for gestational age, Jaundice,... ORPHA:90051
Diamond-Blackfan Anemia 1
Ventricular septal defect, Short stature, Congestive heart failure, Atrial septal defect, Pallor,... OMIM:105650
Noonan Syndrome With Multiple Lentigines
Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mit... ORPHA:500
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Intracranial hemorrhage, Pallor, Hepatomegaly, Splenomegaly ORPHA:3226
African Trypanosomiasis
Third degree atrioventricular block, Weight loss, Abnormal EKG, Akinesia, Jaundice, Choreoathetos... ORPHA:3385
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Congestive heart failure, Pallor, Tachycardia, Splenomegaly ORPHA:90033
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... ORPHA:555874
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect OMIM:619170
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Juvenile Dermatomyositis
Mucosal telangiectasiae, Weight loss, Calcinosis, Bundle branch block, Telangiectasia of the skin... ORPHA:93672
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Congestive heart failure, Hepatomegaly, Pallor ORPHA:75564
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... ORPHA:276621
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Pallor ORPHA:228312
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Anemia, Congenital Dyserythropoietic, Type Ib
Short stature, Jaundice, Pallor, Growth delay, Hepatomegaly, Splenomegaly OMIM:615631
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Pancreatitis, Congestive heart failure, Prox... ORPHA:280365
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Leishmaniasis
Weight loss, Skin ulcer, Elevated hepatic transaminase, Pallor, Hepatomegaly, Splenomegaly ORPHA:507
Primary Hyperoxaluria
Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Elevated hepatic transaminase,... ORPHA:416
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Skeletal muscle atrophy, Arthrogrypo... OMIM:607598
Recessive Mitochondrial Ataxia Syndrome
Gait disturbance, Ataxia, Dysmetria, ST segment elevation, Limb dysmetria ORPHA:94125
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... OMIM:614473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Abnormality of the liver, Elevated hepatic transaminase, Failure to thrive, Arrhythmia, Left bund... OMIM:610131
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Pallor, Hepatosplenomegaly, Failure to thrive, Lethargy OMIM:611590
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... ORPHA:99125
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Short... ORPHA:3426
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor ORPHA:75563
Wrinkly Skin Syndrome
Palmoplantar cutis laxa, Short stature, Atrial septal dilatation, Hypoplasia of the musculature, ... OMIM:278250
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Pallor, Hep... ORPHA:348
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Left ventricular nonco... OMIM:300967
Retinitis Pigmentosa 27
Pallor OMIM:613750
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Splenomegaly, Elevated total serum tryptase, Weight loss, Syncope, Pallor, Hepatomeg... ORPHA:98849
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Acromesomelic Dysplasia 4
Disproportionate short stature, Third degree atrioventricular block, Rhizomelia, Short stature OMIM:619636
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Hypertension, Ataxia, Pallor, Hepatomegaly ORPHA:134
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... ORPHA:99094
Hemoglobin D Disease
Splenomegaly, Pallor ORPHA:90039
Waldenström Macroglobulinemia
Retinal hemorrhage, Purpura, Congestive heart failure, Ataxia, Pallor, Epistaxis, Gastrointestina... ORPHA:33226
Rare Circulatory System Disease
Elbow flexion contracture, Intermittent claudication, Pallor ORPHA:98028
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Familial Atrial Myxoma
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma ORPHA:615
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Small for gestational age, Large for gestational age,... ORPHA:254534
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Tsh-Secreting Pituitary Adenoma
Hypotension, Weight loss, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythm... ORPHA:91347
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Weight loss, Cere... ORPHA:29072
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... OMIM:619343
Eisenmenger Syndrome
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... ORPHA:97214
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Supravalvular aorti... ORPHA:1461
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Ataxia, Pallor, Hepatomegaly, Increased circulating lactate dehydrogenase concentration OMIM:613839
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Intermittent claudication, Atrioventricular block, Arterial occlusion OMIM:259900
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Elevated hepatic transaminase, Short stature, Melena ORPHA:98870
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Left ventricular outflow tract obstruction, Ventricular septal def... OMIM:613854
Mucolipidosis Type Ii
Knee flexion contracture, Patent foramen ovale, Diastasis recti, Pulmonary insufficiency, Hip con... ORPHA:576
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Imerslund-Gräsbeck Syndrome
Failure to thrive, Tachycardia, Weight loss, Pallor ORPHA:35858
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Pallor, Abnormal pulmonary valve morphology, Growth delay, Hepat... ORPHA:667
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG ORPHA:230
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Intrauterine growth retardation, Atrial septal defect, Heart murmur ORPHA:2728
Blackfan-Diamond Anemia
Abnormality of the thenar eminence, Ventricular septal defect, Short stature, Small for gestation... ORPHA:124
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Elevated hepatic transaminase, Heart blo... ORPHA:542323
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Dravet Syndrome
Progressive gait ataxia, Bradykinesia, Pallor ORPHA:33069
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of the pancreas, Rhizomelia, Ab... ORPHA:175
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Right bundle branch block, Flexion contracture, Short stature, S... OMIM:614008
Breath-Holding Spells
Pallor OMIM:607578
Degcags Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... OMIM:619488
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardiomyopathy, Myopathy... OMIM:212140
Fanconi Anemia, Complementation Group E
Small for gestational age, Anemic pallor, Abnormal heart morphology, Short stature OMIM:600901
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia... ORPHA:210122
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:269920
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations ORPHA:231625
Hamamy Syndrome
Complete atrioventricular canal defect, Mitral regurgitation, Atrial septal defect, Prolonged QRS... OMIM:611174
Syndromic Diarrhea
Patent ductus arteriosus, Splenomegaly, Hepatic fibrosis, Abnormality of the liver, Ventricular s... ORPHA:84064
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Patent ductus arteriosus, Left ventricular outflow tract obstruc... ORPHA:99050
Fanconi Anemia, Complementation Group A
Small for gestational age, Anemic pallor, Abnormal heart morphology, Short stature OMIM:227650
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Jaundice, Pallor, Cholecystitis, Hepatomegaly, Cholelithiasis, Reduced red cell pyr... OMIM:266200
Hereditary Folate Malabsorption
Failure to thrive, Skeletal muscle atrophy, Pallor ORPHA:90045
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Choreoathetosis, Ataxia, Pallor, Bradykinesia ORPHA:13
Fanconi Anemia, Complementation Group C
Flexion contracture, Ventricular septal defect, Short stature, Small for gestational age, Anemic ... OMIM:227645
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect OMIM:618652
Cutis Laxa, Autosomal Recessive, Type Iic
Knee flexion contracture, Right bundle branch block, Decreased body weight, Short stature, Mitral... OMIM:617402
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614702
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Sheehan Syndrome
Pallor, Palpitations, Orthostatic hypotension, Obesity, Bradycardia, Dry skin ORPHA:91355
Esophageal Atresia
Ventricular septal defect, Small for gestational age, Pallor, Growth delay, Tetralogy of Fallot, ... ORPHA:1199
Neuraminidase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:256550
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Growth delay, Hepatomegaly, Elevated hepatic iron concentration, Splenomegaly OMIM:615234
Visceral Steatosis, Congenital
Neonatal death, Jaundice, Hepatic steatosis, Myocardial steatosis, Lethargy OMIM:228100
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Cutis Laxa, Autosomal Recessive, Type Iid
Right bundle branch block, Cutis laxa, Hypoplastic right heart, Camptodactyly, Congestive heart f... OMIM:617403
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Mulibrey Nanism
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Homozygous Familial Hypercholesterolemia
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... ORPHA:391665
Refractory Anemia With Excess Blasts
Anemic pallor, Retinal hemorrhage, Palpitations ORPHA:86839
Aortic Valve Disease 1
Mitral atresia, Double outlet right ventricle, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Isotretinoin-Like Syndrome
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Intrauterine growth retardat... ORPHA:2306
Fumarase Deficiency
Failure to thrive, Hepatic failure, Cholestasis, Pallor OMIM:606812
Infection-Related Hemolytic Uremic Syndrome
Hypertension, Pallor, Hypertensive crisis, Myocarditis, Pancreatitis ORPHA:544482
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... OMIM:306955
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Pallor, Hepatosplenomegaly, Failure to thrive, Hepatomegaly ORPHA:331206
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Short stature, Small for gestational age, Abnormal heart morphology, An... OMIM:227646
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Small for gestational age, Elevated hepatic transaminase, Pallor, Failure to thr... OMIM:557000
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Neoplasm of the liver, Pallor, Hypertensive crisis... ORPHA:653
Pearson Syndrome
Hepatic failure, Abnormality of the liver, Small for gestational age, Exocrine pancreatic insuffi... ORPHA:699
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor OMIM:246450
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Myopathy, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly ORPHA:42
Cantu Syndrome
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve OMIM:239850
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Shortened QT interval, Pancreatitis, Weight loss ORPHA:143
Truncus Arteriosus
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... ORPHA:3384
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy OMIM:235200
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Inability to walk, Pallor ORPHA:439218
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Patent foramen ovale, Biliary atresia, Patent ductus arteriosus, Ventricul... ORPHA:2255
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Patent foramen ovale, Pancreatic hypoplasia, Biliary atresia, Patent ductus a... OMIM:600001
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Pallor ORPHA:56425
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Atrioventricular canal defect, Right atrial isomerism, Double outlet ... OMIM:270100
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... OMIM:231005
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... ORPHA:324410
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Cutis laxa, Congestive heart failure, Aortic regurgitation, Redundant ... OMIM:123700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Pallor, Hepatosplenomegaly, Growth delay, Elevated hepatic iron co... ORPHA:300298
Aorta Coarctation
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... ORPHA:1457
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Exercise-induced rhabdomyolysis, Cardiomegaly, Hepatomegaly OMIM:201475
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Multiple Endocrine Neoplasia Type 1
Weight loss, Neoplasm of the pancreas, Hypertension, Insulinoma, Hematemesis, Lethargy, Shortened... ORPHA:652
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Incontinentia Pigmenti
Erythema, Retinal hemorrhage, Short stature, Pallor OMIM:308300
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Shortened QT interval, Pancreatitis ORPHA:99880
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation, Pallor OMIM:616307
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Hepatitis, Jaundice, Pallor, Hepatomegaly, Cholelithiasis OMIM:194380
Heterotaxy, Visceral, 12, Autosomal
Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Congenitally corre... OMIM:619702
Woodhouse-Sakati Syndrome
Abnormal T-wave, Choreoathetosis, Scaling skin, Delayed puberty, Growth delay ORPHA:3464
Cardiac-Urogenital Syndrome
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... OMIM:618280
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Torticollis, Macroglos... OMIM:617022
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Flexion contracture, Ventricular septal defect OMIM:616897
Letterer-Siwe Disease
Pallor, Jaundice, Hepatosplenomegaly OMIM:246400
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Hematochezia, Growth delay ORPHA:329971
Fucosidosis
Cardiomegaly, Decreased muscle mass, Hepatomegaly ORPHA:349
Myelofibrosis
Purpura, Splenomegaly, Pallor OMIM:254450
Sandhoff Disease
Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly OMIM:268800
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:619259
Craniofaciofrontodigital Syndrome
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Macroglossia, Atrial sept... ORPHA:363705
Symptomatic Form Of Hemochromatosis Type 1