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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
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Postnatal growth retardation... OMIM:610198
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
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
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Ven... OMIM:115197
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Difficu... ORPHA:98909
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Nathalie Syndrome
Growth delay, Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... OMIM:613561
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension... OMIM:212138
Cirrhotic Cardiomyopathy
Congestive heart failure, Hepatomegaly, Elevated pulmonary artery pressure, Ventricular arrhythmi... ORPHA:57777
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... ORPHA:26793
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra... ORPHA:398124
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Pallor, Ventricular septal defect, Paroxysmal atrial tachycardia, Letha... ORPHA:49827
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Kearns-Sayre Syndrome
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276575
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276580
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conc... ORPHA:66634
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... ORPHA:71212
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... OMIM:615351
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Small for gestational age, Hypertrophic cardiomyopathy, Ataxia OMIM:615917
Cyclic Vomiting Syndrome
Cardiomyopathy, Pallor, Lethargy, Ataxia, Growth delay OMIM:500007
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failur... OMIM:310200
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Atrioventricular canal defect, Paroxysmal atrial ... ORPHA:392
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Generalized amyotrophy, Lower limb muscle weakness, Abnormal EKG, ... ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Eleva... ORPHA:330001
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Trun... OMIM:614407
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Gr... ORPHA:37553
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Second degree atrioventricular block, Decreased liver function, Intrau... OMIM:617021
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven... OMIM:615616
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... ORPHA:137675
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Failure to thrive, Inability to walk OMIM:620071
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Obesity, Decreased body weight, First degree atrioventricular block, Abnorma... ORPHA:589821
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Familial Hyperaldosteronism Type Iii
Epistaxis, Left ventricular hypertrophy, Prolonged QT interval, Intracranial hemorrhage, Hyperten... ORPHA:251274
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Postnatal growth retard... OMIM:615440
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG OMIM:178650
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Ataxia... OMIM:530000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... ORPHA:268
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle at... ORPHA:3208
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Increased circulating lactate dehydrogenase concentration, Failure to thrive, Hypertrophic cardio... ORPHA:308552
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Difficulty walking, Inability to walk, Re... ORPHA:206559
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Gait imbalance, Li... ORPHA:329336
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Rett Syndrome
Skeletal muscle atrophy, Abnormal T-wave, Gait ataxia, Cachexia, Gait apraxia, Short stature, Tru... OMIM:312750
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Gitelman Syndrome
Prominent U wave, Failure to thrive, Abnormal T-wave, Palpitations, Rhabdomyolysis, ST segment de... ORPHA:358
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Torsade de ... OMIM:616878
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Rheumatic Fever
Epistaxis, Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, A... ORPHA:3099
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis ORPHA:231111
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Abnormal EKG, Hypertrophic cardiomyopathy, Congestive he... OMIM:229300
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous ventricular s... OMIM:618804
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Short stature, Bacterial endocarditis, Premature ventricular contraction, Heart block ORPHA:1964
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Pallor, Cardiomegaly, Hepatom... ORPHA:99931
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Hepatom... ORPHA:848
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Arrhythmia, Myocard... ORPHA:3386
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Short stature OMIM:620062
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Pallor, Lethargy, Syncope, Hepatomegaly, Tachycardia, Sm... ORPHA:324575
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular... OMIM:616276
Steinert Myotonic Dystrophy
Pelvic girdle muscle weakness, Prolonged PR interval, Abnormality of the tongue muscle, Cholelith... ORPHA:273
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal EKG, Arrhythmia, Ataxia, Prolon... ORPHA:480864
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Congenital Sialidosis Type 2
Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Petechiae, Dysmetria, Telangiectasia... ORPHA:93400
Glycogen Storage Disease Ii
Firm muscles, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydr... OMIM:232300
Fallot Complex With Severe Mental And Growth Retardation
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle,... OMIM:601127
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pallor, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:163596
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Pallor, Failure to thrive ORPHA:79283
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia, Increased body weight, Lethargy, Tachycardia ORPHA:276608
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Facial diplegia, First degree atrioventricular block, Atrial fibr... OMIM:160900
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Gitelman Syndrome
Hypotension, Failure to thrive, Palpitations, Rhabdomyolysis, Ventricular tachycardia, Delayed pu... OMIM:263800
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Postnatal growth retardation, Mitral regurg... ORPHA:75249
Dominant Beta-Thalassemia
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Failure to t... ORPHA:231226
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Obesity, Palpitations, Rhabdomy... ORPHA:79102
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Short stature, Patent ductus arteri... OMIM:249670
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Obesity, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy... OMIM:614947
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Dextrocardia
Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Abnormal heart morphology, A... ORPHA:1666
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Growth delay, ... OMIM:619573
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... OMIM:212093
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Limb hypertonia, Atrial septal defect, Pericardial ... OMIM:620070
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Skin ulcer, Pallor, Splenomegaly, Ataxia, Hepatomegal... ORPHA:822
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Beta-Thalassemia Major
Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Failure to t... ORPHA:231214
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Short stature, Scapula... OMIM:170390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho... ORPHA:79333
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Flex... OMIM:616733
Spontaneous Periodic Hypothermia
Arrhythmia, Gait disturbance, Pallor, Ataxia ORPHA:29822
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Growth delay, Failure to thrive, Pulmonic stenosis OMIM:615508
Sotos Syndrome
Muscular ventricular septal defect, Ventricular septal defect, Increased body weight, Atrial sept... OMIM:117550
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Arrhythmia, My... ORPHA:93317
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Gait disturbance, Prolonged QT interval, Short stature OMIM:300352
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Unbalanced atrioventricular canal defect, Mitral atresia, Intrauterine gr... OMIM:620294
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Increased circulating lactate dehydrogenase concentrati... ORPHA:90068
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Difficulty walking, Elevated circulating alanine aminotransferase con... ORPHA:365
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Truncal obesity, Prolonged QT interval, Patent ductus arteriosus af... ORPHA:529962
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Pal... ORPHA:20
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Biventricular hypertr... ORPHA:79324
Benign Paroxysmal Torticollis Of Infancy
Pallor, Torticollis, Ataxia ORPHA:71518
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hepatic failure, Sinus tachycardia, Decreased liver functio... ORPHA:466650
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:94080
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Pulmonary arterial hypertension, Prolonged QT interval, Camptodacty... OMIM:620029
Evans Syndrome
Epistaxis, Pallor, Petechiae, Lethargy, Syncope, Jaundice ORPHA:1959
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Dry skin, Splenomegaly, Ataxia, Heart block ORPHA:773
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Delayed me... OMIM:151100
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... OMIM:249270
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Large for gestational age, Pallor, Eleva... ORPHA:263455
Mucopolysaccharidosis Type 3
Atrioventricular block, Reduced left ventricular ejection fraction, Splenomegaly, Abnormal mitral... ORPHA:581
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... ORPHA:70591
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Ataxia, Atrial fibrillation,... ORPHA:31826
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Spastic gait, Pallor, Loss of ambulation OMIM:606353
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Pallor, Splenomegaly ORPHA:46532
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Congestive heart failur... OMIM:620609
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhy... ORPHA:2131
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Short stature ORPHA:94089
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Increased circulating lactate dehydrogenase concentration, Axial muscle ... ORPHA:254361
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Atrophoderma Vermiculata
Erythema, Heart block ORPHA:79100
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Camptodactyly of finger, Bundle branch block, Polysplenia, Congenital diaphragmat... ORPHA:373
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ... OMIM:615355
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Patent foramen ovale, Decreased body weight, Ventricular... OMIM:609053
Dpagt1-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Inability to walk, Ak... ORPHA:86309
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Short stature OMIM:619227
Feingold Syndrome Type 1
Abnormal heart morphology, Multiple muscular ventricular septal defects, Short stature, Tricuspid... ORPHA:391641
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Portal hypertensio... ORPHA:824
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, ... OMIM:615279
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Disproportionate short stature, Shoulder flexion contracture, Failure to thrive, Tetralogy of Fal... OMIM:210710
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Right bundle branch block, Skeletal muscle hypertrophy OMIM:613158
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99413
Turner Syndrome
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:881
Mosaic Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99228
Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic... ORPHA:99226
Roifman Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, Hip contracture, Ven... OMIM:616651
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly OMIM:614096
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Postnatal growth retardation, Delayed menarche, Abnorm... ORPHA:648
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Delayed pub... OMIM:600462
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Muscular subvalvular aortic stenosis, Congestive heart f... OMIM:601992
Ogden Syndrome
Shuffling gait, Cardiogenic shock, Postnatal growth retardation, Ventricular septal defect, Arrhy... ORPHA:276432
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Pallor, Neoplasm of the pancreas, Dista... ORPHA:892
45,X/46,Xy Mixed Gonadal Dysgenesis
Obesity, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities, Delayed puberty, Pro... ORPHA:1772
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Failure to thrive, Congestiv... ORPHA:3260
Cardiospondylocarpofacial Syndrome
Failure to thrive, Muscular ventricular septal defect, Congenital diaphragmatic hernia, Patent fo... OMIM:157800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Failure to thrive, Tetralogy of Fallot, Mitral regurgitation, Mitral val... OMIM:612561
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... OMIM:142900
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Obesity, Short stature, Calcinosis ORPHA:79444
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Rhabdomyolysis, Elevated serum transaminases during... ORPHA:509
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Growth delay, Ele... OMIM:614921
Cerebellar-Facial-Dental Syndrome
Severe short stature, Infancy onset short-trunk short stature, Foot joint contracture, Failure to... ORPHA:444072
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Peripheral Cone Dystrophy
Pallor OMIM:609021
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Arrhythm... ORPHA:228308
Pseudohypoparathyroidism Type 1A
Obesity, Short stature, Calcinosis, Prolonged QT interval, Hypertension, Choreoathetosis ORPHA:79443
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Broad-based gait, Cholestasis, Dry skin, Hepatosplenomegaly, Hepatic steatosis, Hip con... OMIM:619503
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Transaldolase Deficiency
Hepatic fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Microno... OMIM:606003
Scorpion Envenomation
Acute pancreatitis, Erythema, Cardiogenic shock, Prominent U wave, Increased circulating lactate ... ORPHA:466677
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Pallor, Splenomegaly, Congestive heart failure ORPHA:90037
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Difficulty walking, Postnatal growth retardation,... ORPHA:423461
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ... OMIM:618775
Deafness-Lymphedema-Leukemia Syndrome
Pallor, Splenomegaly, Weight loss, Hepatomegaly, Intracranial hemorrhage ORPHA:3226
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Sepsis In Premature Infants
Hypotension, Decreased liver function, Pallor, Petechiae, Splenomegaly, Decreased body weight, Ja... ORPHA:90051
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Decreased liver function, Hepatosplenomegaly, Abnormality of the live... ORPHA:231222
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Failure to thrive, Muscular ventricular septal defect, Truncus arteriosus, ... OMIM:612474
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Intrauterine gro... ORPHA:500
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Cone-Rod Dystrophy 11
Pallor OMIM:610381
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormal EKG OMIM:613102
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Pallor, Splenomegaly, Congestive heart failure ORPHA:75564
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:276621
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Pallor, Splenomegaly, Jaundice, Tachycardia ORPHA:90033
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Erythema, Skin ulcer, Cardiomyopathy, Bundle branch bloc... ORPHA:93672
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Decreased methionine... OMIM:277400
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Failure to thrive, Congenital diaphragmatic hernia, Apical muscular ventr... OMIM:301022
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tri... ORPHA:555874
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Growth delay OMIM:615631
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pallor, Splenomegaly, Weight... ORPHA:507
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Atrial septal defect, Ventricular preexcitation, At... OMIM:224700
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Arterial occlusion, Failure to thrive, C... ORPHA:416
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Hepa... ORPHA:280365
Diamond-Blackfan Anemia 1
Failure to thrive, Congestive heart failure, Elevated red cell adenosine deaminase activity, Intr... OMIM:105650
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Pat... OMIM:300967
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Pallor, Lethargy, Short stature OMIM:611590
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation ORPHA:94125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Failure to thrive,... OMIM:610131
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Dry skin, Postnatal growth retardation, Intrauterine growth retardation, Left ventricul... OMIM:620510
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Double Outlet Right Ventricle
Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Heart murmur, Truncus arteriosus,... ORPHA:3426
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio... ORPHA:348
Beta-Ketothiolase Deficiency
Hypotension, Pallor, Weight loss, Ataxia, Hepatomegaly, Hypertension ORPHA:134
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Failure to thrive, Muscular ventricular septal defect, Intrauterin... OMIM:278250
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Pallor, Perimembranous ventricular ... OMIM:606812
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Elevated total serum tryptase, Pallor, Splenomegaly, Syncope, Weight loss, Hepatomeg... ORPHA:98849
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Pallor, Splenomegal... ORPHA:33226
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Reduce... OMIM:259900
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Acromesomelic Dysplasia 4
Short stature, Rhizomelia, Disproportionate short stature, Third degree atrioventricular block OMIM:619636
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... ORPHA:29072
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans... OMIM:246450
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Postnatal growth retardation, Large for gestational age, Diastasis rec... ORPHA:254534
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased circulating lactate dehydrogenase concentration, Pallor, Ataxia, Hepatomegaly, Jaundice OMIM:613839
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Failure to thrive, Biventricular hypertrophy, Coronary artery fistula, Co... OMIM:619343
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Elevated circulating hepatic transaminase concentration, Pallor, Melena ORPHA:98870
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Pallor, Weight loss,... ORPHA:91347
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Dravet Syndrome
Progressive gait ataxia, Bradykinesia, Pallor ORPHA:33069
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Inability to wa... ORPHA:576
Imerslund-Gräsbeck Syndrome
Tachycardia, Weight loss, Pallor, Failure to thrive ORPHA:35858
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp... OMIM:613854
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal ri... ORPHA:3427
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Abnormal hear... ORPHA:124
Retinitis Pigmentosa 51
Obesity, Pallor OMIM:613464
Cartilage-Hair Hypoplasia
Rhizomelia, Disproportionate short-limb short stature, Failure to thrive, Cardiomyopathy, Aplasia... ORPHA:175
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Pallor, Splenomegaly, Pulmonary arterial hypertension, Hepat... ORPHA:667
Degcags Syndrome
Small for gestational age, Failure to thrive, Cholestasis, Intrauterine growth retardation, Hepat... OMIM:619488
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Intrauterine growth retardation, Atrial septal defect, Postnatal growth retardation ORPHA:2728
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Breath-Holding Spells
Pallor OMIM:607578
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Cardiomegaly, ... OMIM:212140
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:269920
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Neuroblastoma
Increased circulating lactate dehydrogenase concentration, Antalgic gait, Anemic pallor, Weight l... ORPHA:635
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Intrauterine growth retardation, Pallor, Dysmetria, Gait disturbance, Weight loss, Ataxia, Short ... OMIM:301310
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Anemic pallor, Short stature, Small for gestational age OMIM:600901
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive, Pallor ORPHA:90045
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Right Atrial Isomerism
Total anomalous pulmonary venous return, Polysplenia, Tetralogy of Fallot, Abdominal situs ambigu... OMIM:208530
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Anemic pallor, Short stature, Small for gestational age OMIM:227650
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Pallor, ... OMIM:266200
Hamamy Syndrome
Mitral regurgitation, Prolonged QRS complex, Complete atrioventricular canal defect, Atrial septa... OMIM:611174
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Falls, Pallor, Ataxia, Bradykinesia, Choreoathetosis ORPHA:13
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Fanconi Anemia, Complementation Group C
Intrauterine growth retardation, Ventricular septal defect, Anemic pallor, Short stature, Flexion... OMIM:227645
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Failure to thrive, Congestive heart failure, Tetralogy of Fallot, Ventric... ORPHA:99050
Esophageal Atresia
Tetralogy of Fallot, Failure to thrive in infancy, Pallor, Ventricular septal defect, Growth dela... ORPHA:1199
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Sheehan Syndrome
Dry skin, Obesity, Palpitations, Pallor, Orthostatic hypotension, Bradycardia ORPHA:91355
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:260400
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Postnatal growth retardation, Intra... ORPHA:2306
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly OMIM:252920
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Anemic pallor, Palpitations ORPHA:86839
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Redundant skin, Right b... OMIM:617403
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Splenomegaly, Elevated hepatic iron concentration, Hepatomegaly, Growth delay OMIM:615234
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Pallor, Pancreatitis, Myocarditis, Hypertension ORPHA:544482
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Pa... OMIM:306955
Fanconi Anemia, Complementation Group D2
Annular pancreas, Abnormal heart morphology, Anemic pallor, Patent ductus arteriosus, Short statu... OMIM:227646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, P... ORPHA:331206
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to th... OMIM:557000
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Tachycardia, Jaundice, Purpura, Diffuse alveolar hemorrhage, Increased circulating ... ORPHA:99827
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma, Neoplas... ORPHA:653
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepatomegaly ORPHA:42
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnorma... ORPHA:699
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease, Classic
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, At... OMIM:270100
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Facial erythema, Pallor ORPHA:439218
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Failure to thrive, Pancreatic hypo... OMIM:600001
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Pancreatitis, Shortened QT interval ORPHA:143
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Small for gestational age, Failure to thrive, Congenital defect of t... ORPHA:2255
Cold Agglutinin Disease
Hepatomegaly, Pallor, Splenomegaly ORPHA:56425
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:617713
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Pituitary Apoplexy
Hypotension, Hypertension, Pallor ORPHA:95613
Prolactinoma
Hypotension, Delayed puberty, Pallor ORPHA:2965
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... ORPHA:324410
Non-Functioning Pituitary Adenoma
Hypotension, Pallor ORPHA:91349
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Elevated hep... ORPHA:300298
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Exercise-induced rhabdomyolysis OMIM:201475
Panhypophysitis
Pallor, Orthostatic hypotension ORPHA:95513
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Insulinoma, Lethargy, Weight loss, Hematemesis, Melena, Hypertension, Neop... ORPHA:652
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Accessory spleen, Biventricular hypertrophy, ... OMIM:618280
Incontinentia Pigmenti
Retinal hemorrhage, Erythema, Pallor, Short stature OMIM:308300
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Pancreatitis, Shortened QT interval ORPHA:99880
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Pallor, Splenomegaly, Hepatomegaly, Jaundice OMIM:194380
Myelofibrosis
Hepatomegaly, Purpura, Pallor, Splenomegaly OMIM:254450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Woodhouse-Sakati Syndrome
Abnormal T-wave, Delayed puberty, Scaling skin, Growth delay, Choreoathetosis ORPHA:3464
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Pallor OMIM:246400
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Small for gestational age, Secundum atrial septal defect, Postnatal growth retardation, Bicuspid ... OMIM:613355
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor, Growth delay ORPHA:329971
Fucosidosis
Cardiomegaly, Hepatomegaly, Decreased muscle mass ORPHA:349
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:619259
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Hepatomegaly OMIM:255120
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Jaundice, Pallor, Splenomegaly OMIM:300908
Tay-Sachs Disease
Pallor OMIM:272800
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly, Hepatomegaly ORPHA:465508
Retinitis Pigmentosa 75
Pallor OMIM:617023
Elliptocytosis 1
Jaundice, Pallor, Splenomegaly OMIM:611804
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Joint contracture of the ... OMIM:602782
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Arrhythmia, Abnormal cardiac vent... ORPHA:797
Childhood Absence Epilepsy
Pallor ORPHA:64280
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave OMIM:241080
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Limb hypertonia OMIM:620306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Aregenerative Anemia
Pallor ORPHA:101096
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Arthrogryposis multiplex congenita OMIM:608013
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thenar muscle atrophy, Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly ORPHA:2463
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Goodpasture Syndrome
Pulmonary hemorrhage, Weight loss, Pallor OMIM:233450
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Cardiomegaly, Hepatomegaly, Camptodac... OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Macroglossia, Hepatomegaly, Ventricular septal defect ORPHA:96191
Bohring-Opitz Syndrome
Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Facial hypotonia, Bilat... ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Abetalipoproteinemia
Distal lower limb muscle weakness, Hepatomegaly, Cardiomegaly, Myopathy ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Limb hypertonia, Patent foramen ovale OMIM:620371
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myositis ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contracture, Splenomegaly, Cardio... OMIM:256040
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Congenital diaphragmatic hernia, Spl... ORPHA:116
Autoinflammatory Disease, Systemic, With Vasculitis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:620376
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect ORPHA:3472
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Williams Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Myopathy, Ventricular septal defect, Cardiomega... ORPHA:904
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Muscle fiber atrophy, Cardiomegaly, Mitral val... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Xirp2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Xirp2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population. Journal of the American Heart Association (January 2018) Xirp2tm1a(KOMP)Wtsi Xirp2tm1b(KOMP)Wtsi PMC5778954

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Xirp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Xirp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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