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Genes Phenotypes Help, News, Blog

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
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Ethanolaminosis
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... OMIM:604169
3-Methylglutaconic Aciduria, Type V
Postnatal growth retardation, Congestive heart failure, Prolonged QT interval, Noncompaction card... OMIM:610198
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Congenital Myopathy 5 With Cardiomyopathy
Congestive heart failure, Severely reduced left ventricular ejection fraction, Calf muscle hypert... OMIM:611705
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal hypertroph... OMIM:115197
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, Waddling gait, First degree atri... OMIM:617336
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, L... OMIM:108900
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Attrv30M Amyloidosis
Cardiomyopathy, Atrioventricular block, Weight loss, Arrhythmia, Cardiomegaly ORPHA:85447
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Difficulty walking, Concentric hyper... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Myofibrillar Myopathy 10
Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno... OMIM:619040
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Nathalie Syndrome
Growth delay, Skeletal muscle atrophy, Abnormal EKG OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ragged-red muscle fibers, ... OMIM:613561
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h... OMIM:212138
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98855
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Jaundice, Prolonged QT interval, Elevated circulating hepatic transaminase ... ORPHA:26793
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hepa... ORPHA:398124
Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98853
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Short stature, Pallor, Paroxysmal atrial tachycardia, A... ORPHA:49827
X-Linked Emery-Dreifuss Muscular Dystrophy
Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower limbs, Proximal upper... ORPHA:98863
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Acute Peripheral Arterial Occlusion
Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle w... ORPHA:90064
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper... ORPHA:276556
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Muscle fiber hyaline bodies, Type 1 muscle fiber predominance, Fourth h... OMIM:255160
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper... ORPHA:276575
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper... ORPHA:276580
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Splenomegaly, Prolonged QRS ... ORPHA:75565
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m... ORPHA:860
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Prolonged QT interval, Elevated circulating hepatic transamin... ORPHA:66634
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Prolonged QT interval, Hypoglycosylation of ... OMIM:615351
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged QT interval, Elevated circulating hepa... ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Ataxia, Small for gestational age, Hypertrophic cardiomyopathy OMIM:615917
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Cyclic Vomiting Syndrome
Cardiomyopathy, Growth delay, Ataxia, Pallor, Lethargy OMIM:500007
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Muscular dystrophy, Congestive heart failure, Calf muscle pseudohypertrophy, Calf m... OMIM:310200
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Anomalous pulmonary venous return,... ORPHA:392
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Generalized amyotrophy, Lower limb hypertonia, Progressive gait at... ORPHA:1177
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Failure to thrive, I... OMIM:617228
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop... ORPHA:330001
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Joint contracture of the 5th finger, Truncal ataxia, Growth delay, Failure to thrive... OMIM:614407
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus... OMIM:617021
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Histiocytoid Cardiomyopathy
Congestive heart failure, Atrial flutter, Wolff-Parkinson-White syndrome, Hepatomegaly, Tachycard... ORPHA:137675
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Truncal ataxia, Abnormal mitochondria in muscle tissue, Hypertrophic ca... OMIM:252011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Birk-Aharoni Syndrome
Failure to thrive, Muscular ventricular septal defect, Inability to walk OMIM:620071
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Decreased body weight, Obesity, Bundle branch block, Patent ductus arteriosus, ... ORPHA:589821
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Reduced le... ORPHA:45452
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... ORPHA:251274
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib... OMIM:607554
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Combined Oxidative Phosphorylation Deficiency 17
Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to t... OMIM:615440
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Proximal muscle weakness in upper limbs, Inability to walk, Reduced left ventricula... ORPHA:268
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Cardiomyopathy, Short stature, Ataxia, Arrhythmia, Third degree atriove... OMIM:530000
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Distal amyotrophy, Hypertroph... ORPHA:3208
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Difficulty walking, Inability to walk, Calf muscle hypertr... ORPHA:206559
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transaminas... OMIM:613327
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Athetosis, Pulmonary arterial hype... OMIM:615474
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Gait imbalance, Limb dysmetria, Cardiomyopathy, Limb muscle... ORPHA:329336
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Rett Syndrome
Prolonged QTc interval, Cachexia, Truncal ataxia, Gait apraxia, Gait ataxia, Short stature, Skele... OMIM:312750
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Congestive heart failure, Cardiomegaly, Aortic regurgitation, Inability to walk, Truncal ataxia, ... OMIM:620066
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Elevated circulating hepatic transaminase concentration, Prolonged QTc inte... OMIM:616878
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Low-to-normal... ORPHA:358
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Tr... OMIM:616501
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Athetosis, Pulmonary arterial hypertension, Epistaxis, Int... ORPHA:369929
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Left... ORPHA:363444
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal cardiac ventricle morphology, Monoclonal ligh... ORPHA:85443
Drug-Induced Lupus Erythematosus
Pericardial effusion, Pericarditis, Petechiae, Prolonged QTc interval ORPHA:231111
Rheumatic Fever
Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Gait disturbance,... ORPHA:3099
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Friedreich Ataxia
Limb ataxia, Congestive heart failure, Decreased pyruvate carboxylase activity, Hypertrophic card... OMIM:229300
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced left ventricular ejection fraction, ... ORPHA:3093
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Intr... OMIM:618804
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, D... OMIM:616201
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Failure to thrive, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar... ORPHA:99931
Beta-Thalassemia
Skin ulcer, Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Pallor, Hepa... ORPHA:848
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Pa... ORPHA:3386
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Short stature, Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy, Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Muscular ventricular septal defect OMIM:620062
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Hepatomegaly, Tachycardia, Lethargy, Syncope, Palpitations, Pallor, Sm... ORPHA:324575
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal... ORPHA:371428
Scapuloperoneal Myopathy, X-Linked Dominant
Steppage gait, Right bundle branch block, Scapular winging, Waddling gait, Scapuloperoneal myopat... OMIM:300695
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Acute rhabdomyolysis, Prolonged QT interval, Elevated circulating hepatic transaminase concentrat... ORPHA:480864
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growth retardati... OMIM:616276
Steinert Myotonic Dystrophy
Elevated circulating hepatic transaminase concentration, Facial diplegia, Abnormality of the tong... ORPHA:273
Congenital Sialidosis Type 2
Hepatomegaly, Petechiae, Abnormal heart morphology, Hepatosplenomegaly, Ataxia, Abnormal EKG, Dys... ORPHA:93400
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Difficulty walki... OMIM:232300
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Failure to thrive, Tetralogy of Fallot, Double outlet right ventricle, Ventric... OMIM:601127
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hepatomegaly, Pericarditis, Splenomegaly, Pallor ORPHA:163596
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor, Lethargy, Gait disturbance ORPHA:79283
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Tachycardia, Pallor, Pancreatic islet-cell hyperplasia, Lethargy ORPHA:276608
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, Facial diplegia, First degree atrioventricul... OMIM:160900
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Gitelman Syndrome
Delayed puberty, Prolonged QT interval, Hypotension, Growth delay, Failure to thrive, Rhabdomyoly... OMIM:263800
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Delayed puberty, Abnormal aortic valve... ORPHA:324
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Postnatal growth retardation, Hepatomegaly, Atrial fibrillation, Suprave... ORPHA:75249
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Skin ulcer, Jaundice, Hypoplasia of the musculature, Hepatocellular c... ORPHA:231226
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Second degree atrioventricular block, Ventricular fibrillation, Rhabdomyol... ORPHA:79102
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Short stature, Patent ductus arteriosus, Atrial septal defect, Ve... OMIM:249670
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Congestive heart failure, Atrial flutter, Reduced left ventric... ORPHA:980
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Short stature, Obes... OMIM:614947
Dextrocardia
Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality of abdominal situs, Abno... ORPHA:1666
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, ... ORPHA:536516
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Atrioventricular canal defect, Jaundice, Hepatomegaly, Hypertension, Choles... OMIM:619573
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Limb hypertonia, Multiple muscular ventricular septal defects, Short stature, Pericardial effusio... OMIM:620070
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Hereditary Spherocytosis
Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Restrictive cardiomyopathy, Growth delay, Ata... ORPHA:822
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scapular winging, Short stature,... OMIM:170390
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Hypoplasia of the musculature, He... ORPHA:231214
Cog7-Cdg
Postnatal growth retardation, Jaundice, Excessive wrinkled skin, Elevated circulating hepatic tra... ORPHA:79333
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Hypertension, Flexion contracture, Left ventricular hypertrophy, In... OMIM:616733
Spontaneous Periodic Hypothermia
Pallor, Ataxia, Gait disturbance, Arrhythmia ORPHA:29822
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Pulmonic stenosis, Failure to thrive, Growth delay, Multiple muscular ventricular septal defects OMIM:615508
Sotos Syndrome
Muscular ventricular septal defect, Increased body weight, Prolonged neonatal jaundice, Patent du... OMIM:117550
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Rhizomelic arm shortening, Atrioventricular block, Arrhythmia, Disproportionate shor... ORPHA:93317
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Broad-based gait, Gait disturbance, Short stature, Failure to thrive OMIM:300352
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial se... OMIM:617912
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Transposition of the great arteries, Truncus arteriosus, Pulmonic stenosis, ... OMIM:620294
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Cocaine Intoxication
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... ORPHA:90068
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Glycogen Storage Disease Due To Acid Maltase Deficiency
Increased circulating lactate dehydrogenase concentration, Heart murmur, Left ventricular hypertr... ORPHA:365
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis, Failure t... ORPHA:529962
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cardiac arrest, ... ORPHA:20
Alg12-Cdg
Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Abno... ORPHA:79324
Benign Paroxysmal Torticollis Of Infancy
Pallor, Ataxia, Torticollis ORPHA:71518
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Dry ... ORPHA:466650
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:94080
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Postnatal growth retardation, Prolonged QT interval, Pulmonary arterial hypertension, Camptodacty... OMIM:620029
Evans Syndrome
Jaundice, Petechiae, Epistaxis, Syncope, Pallor, Lethargy ORPHA:1959
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Meier-Gorlin Syndrome 7
Meconium peritonitis, Heart block, Decreased body weight, Short stature, Growth delay, Atrial sep... OMIM:617063
Refsum Disease
Heart block, Cardiomyopathy, Dry skin, Ataxia, Splenomegaly, Skeletal muscle atrophy ORPHA:773
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval ORPHA:36913
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Leopard Syndrome 1
Delayed puberty, Scapular winging, Delayed menarche, Hypertrophic cardiomyopathy, Pulmonic stenos... OMIM:151100
Ethylene Glycol Poisoning
Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval, Atrial fibril... ORPHA:31826
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Short stature, Ataxia, Arrhythmia, Atrial septal defect, ... OMIM:249270
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,... ORPHA:263455
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Hepatomegaly, Reduced left ventricular ejection fraction, Gait ... ORPHA:581
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Primary Lateral Sclerosis, Juvenile
Spastic gait, Pallor, Loss of ambulation, Spasticity of facial muscles OMIM:606353
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Hepatomegaly, Splenomegaly ORPHA:46532
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Failure to... OMIM:620609
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiomyopathy, Failure to thrive, Cardiac conduction abnormality, Ataxia, Arrh... ORPHA:2131
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Distal lower ... ORPHA:254361
Pseudohypoparathyroidism Type 1B
Short stature, Prolonged QT interval ORPHA:94089
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Atrophoderma Vermiculata
Heart block, Erythema ORPHA:79100
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Hepatomegaly, Prolonged QT interval, Cardiomyopathy, Polysplenia... ORPHA:373
Noonan Syndrome 8
Large for gestational age, Patent ductus arteriosus, Palmoplantar cutis laxa, Hypertrophic cardio... OMIM:615355
Dpagt1-Cdg
Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Aki... ORPHA:86309
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Decreased body weight, Short stature, Pallor, Intrauterine growth retardati... OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Short stature, Muscular ventricular septal defect OMIM:619227
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Multiple muscular ventricular septal defects, Short statur... ORPHA:391641
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Primary Myelofibrosis
Purpura, Hepatomegaly, Petechiae, Cachexia, Portal hypertension, Increased circulating lactate de... ORPHA:824
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Pulmonic stenosis, Short stature, Failure to thrive, Atrial septal d... OMIM:615279
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Stillbirth, Disproportionate short stature, Muscular ventricular septal defect, Shoulder flexion ... OMIM:210710
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Congestive heart failure, Tricuspid atresia, Partial anomalous... ORPHA:185
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Turner Syndrome Due To Structural X Chromosome Anomalies
Postnatal growth retardation, Delayed puberty, Cholestatic liver disease, Cirrhosis, Prolonged QT... ORPHA:99413
Turner Syndrome
Postnatal growth retardation, Delayed puberty, Cholestatic liver disease, Cirrhosis, Prolonged QT... ORPHA:881
Mosaic Monosomy X
Postnatal growth retardation, Delayed puberty, Cholestatic liver disease, Cirrhosis, Prolonged QT... ORPHA:99228
Monosomy X
Postnatal growth retardation, Delayed puberty, Cholestatic liver disease, Cirrhosis, Prolonged QT... ORPHA:99226
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Roifman Syndrome
Postnatal growth retardation, Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Hip cont... OMIM:616651
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy OMIM:614096
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Distal amyotrophy, Dysdiadoch... OMIM:617675
Noonan Syndrome
Postnatal growth retardation, Hepatomegaly, Patent ductus arteriosus, Aplasia/Hypoplasia of the a... ORPHA:648
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Generalized limb muscle atrophy, Ragged-red muscle fibers, Scapular winging, Gro... OMIM:600462
Friedreich Ataxia 2
Congestive heart failure, Decreased pyruvate carboxylase activity, Concentric hypertrophic cardio... OMIM:601992
Ogden Syndrome
Postnatal growth retardation, Torticollis, Shuffling gait, Cutis laxa, Cardiogenic shock, Arrhyth... ORPHA:276432
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Prolonged QT interval, Tachycardia, Short stature, Obesity, Muscle hypertrophy o... ORPHA:1772
Von Hippel-Lindau Disease
Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Pancreatic islet cell a... ORPHA:892
Idiopathic Hypereosinophilic Syndrome
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Portal fibrosi... ORPHA:3260
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Muscular ventricular septal defect, Patent foramen ovale, Short ... OMIM:157800
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Growth delay, Failure to thrive, Tetralogy of Fallot, Mitral valve prola... OMIM:612561
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of r... OMIM:142900
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Pseudohypoparathyroidism Type 1C
Short stature, Calcinosis, Prolonged QT interval, Obesity ORPHA:79444
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Heart block, Hepatomegaly, Reduced tissue carnitine O-palmitoy... ORPHA:228308
Leptospirosis
Jaundice, Hepatomegaly, Hypotension, Retinal hemorrhage, Pericarditis, Rhabdomyolysis, Subconjunc... ORPHA:509
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentratio... OMIM:614921
Cerebellar-Facial-Dental Syndrome
Limb hypertonia, Foot joint contracture, Failure to thrive, Severe short stature, Mitral valve pr... ORPHA:444072
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypertension, Short stature, Obesity, Choreoathetosis ORPHA:79443
Peripheral Cone Dystrophy
Pallor OMIM:609021
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Scaling skin, Cholestasis, Cutis laxa, Hepatic steatosis, Tip-toe gait, Transposition of the grea... OMIM:619503
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Patent foramen ovale, Hepatic fibrosis, Failur... OMIM:606003
Scorpion Envenomation
Myocarditis, Congestive heart failure, Purpura, Prominent U wave, Hypertension, Acute pancreatiti... ORPHA:466677
Mucolipidosis Type Iii Alpha/Beta
Postnatal growth retardation, Congestive heart failure, Difficulty walking, Aortic regurgitation,... ORPHA:423461
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Pallor, Splenomegaly ORPHA:90037
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Muscular ventricular septal defect OMIM:618569
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Cholelithiasis, Bradycardia, Hypertrophic cardiomyopathy, Pericardi... OMIM:618775
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Intracranial hemorrhage, Pallor ORPHA:3226
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Hepatomegaly, Bradycardia, Petechiae, Decreased body... ORPHA:90051
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Skin ulcer, Jaundice, Hepatomegaly, Cholelithiasis, Hepatoce... ORPHA:231222
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Myocardial infarction, Atrioventricular canal defect, Excessive ... 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
Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Akinesia, Difficulty walking, Gait... ORPHA:3385
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormal EKG OMIM:613102
Leber Congenital Amaurosis 14
Pallor, Falls OMIM:613341
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Pallor, Hepatomegaly, Splenomegaly ORPHA:75564
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:276621
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Cardiac amyloidosis, Left ventricular outflow tract obs... ORPHA:439232
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Jaundice, Splenomegaly, Tachycardia, Pallor ORPHA:90033
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Juvenile Dermatomyositis
Calcinosis, Skin ulcer, Gastrointestinal hemorrhage, Myositis, Vasculitis, Angina pectoris, Cardi... ORPHA:93672
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Hepatomegaly... OMIM:277400
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Facial palsy, Short stature, Failure to thrive, Unsteady gait, A... OMIM:301022
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Small for ge... ORPHA:555874
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Hepatomegaly, Growth delay, Short stature, Splenomegaly, Pallor OMIM:615631
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Leishmaniasis
Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splenomegaly, ... ORPHA:507
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Primary Hyperoxaluria
Heart block, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Intermitten... ORPHA:416
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hepatomegaly, Pancreatitis, Skele... ORPHA:280365
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Tricuspid stenosis, Sho... OMIM:105650
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Gait disturbance, Ataxia, Limb dysmetria, Dysmetria ORPHA:94125
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Short stature, Failure to thrive, Hepatosplenomegaly, Pallor, Lethargy OMIM:611590
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated circulating hepatic transaminase concentration, Left bundle branch block, Ventricular bi... OMIM:610131
X-Linked Sideroblastic Anemia
Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Postnatal growth retardation, Dry skin, Left-to-right shunt, Left ventricular hypertrophy, Intrau... OMIM:620510
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Pulmonic stenosis, Short stature, Failure to thrive, Tetralogy o... ORPHA:3426
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Knee flexion contracture, Cholestasis, Biliary ci... OMIM:620454
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym... ORPHA:348
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypertension, Hypotension, Ataxia, Weight loss, Pallor ORPHA:134
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Hypoplasia of the musculature, Redundant skin, Scapular wingi... OMIM:278250
Fumarase Deficiency
Decreased fumarate hydratase activity, Perimembranous ventricular septal defect, Intrahepatic cho... OMIM:606812
Hemoglobin D Disease
Pallor, Splenomegaly ORPHA:90039
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Elevated total serum tryptase, Hypotension, Splenomegaly, Weight loss,... ORPHA:98849
Waldenström Macroglobulinemia
Congestive heart failure, Purpura, Gastrointestinal hemorrhage, Hepatomegaly, Vasculitis, Retinal... ORPHA:33226
Hyperoxaluria, Primary, Type I
Reduced hepatic alanine-glyoxylate aminotransferase activity, Intermittent claudication, Raynaud ... OMIM:259900
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Acromesomelic Dysplasia 4
Short stature, Rhizomelia, Third degree atrioventricular block, Disproportionate short stature OMIM:619636
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... ORPHA:29072
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Reduced HMG-CoA lyase activity in cultured fibroblasts, Hepatomegaly, Cardiac arrest, Elevated ci... OMIM:246450
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large for gestational age, Diastasis recti, Abnormal heart morpholo... ORPHA:254534
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... ORPHA:99094
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Ataxia, Pallor OMIM:613839
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Coronary artery f... OMIM:619343
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Right-to-lef... ORPHA:97214
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Pallor, Elevated circulating hepatic transaminase concentration, Melena ORPHA:98870
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension... ORPHA:91347
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Sinus bradycardia OMIM:126320
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Mucolipidosis Type Ii
Postnatal growth retardation, Pulmonary insufficiency, Abnormal aortic valve morphology, Aortic r... ORPHA:576
Dravet Syndrome
Bradykinesia, Pallor, Progressive gait ataxia ORPHA:33069
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Pallor, Weight loss ORPHA:35858
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Left ventricular outflow tract obstruction, Total anomalous ... OMIM:613854
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Criss-Cross Heart
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... ORPHA:1461
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Short stature... ORPHA:124
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Cartilage-Hair Hypoplasia
Heart block, Rhizomelia, Hepatomegaly, Disproportionate short-limb short stature, Cardiomyopathy,... ORPHA:175
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pulmonary arterial hypertension, Growth delay, Splenomegaly, Pallor, Abnormal pulmo... ORPHA:667
Degcags Syndrome
Hepatomegaly, Small for gestational age, Dysplastic pulmonary valve, Patent foramen ovale, Choles... OMIM:619488
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Intrauterine growth retardation, Atrial septal defect, Postnatal growth retardation, Heart murmur ORPHA:2728
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly ORPHA:858
Breath-Holding Spells
Pallor OMIM:607578
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardio... 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
Anemic pallor, Hypertension, Increased circulating lactate dehydrogenase concentration, Ataxia, W... ORPHA:635
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Gait disturbance, Short stature, Nonprogressive cerebellar ataxia, Ataxia, We... OMIM:301310
Fanconi Anemia, Complementation Group E
Short stature, Anemic pallor, Abnormal heart morphology, Small for gestational age OMIM:600901
Hereditary Folate Malabsorption
Failure to thrive, Pallor, Skeletal muscle atrophy ORPHA:90045
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Absent gallbladder, Pul... ORPHA:210122
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon... OMIM:208530
Hamamy Syndrome
Atrial septal defect, Mitral regurgitation, Complete atrioventricular canal defect, Prolonged QRS... OMIM:611174
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Reduced red cell pyruvate kinase level, Cholelithiasis, Splenomegaly, Int... OMIM:266200
Fanconi Anemia, Complementation Group A
Short stature, Anemic pallor, Abnormal heart morphology, Small for gestational age OMIM:227650
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Falls, Ataxia, Pallor, Choreoathetosis ORPHA:13
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy OMIM:614702
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Transposition of the great arteries, Patent ductus arteriosus, Left ven... ORPHA:99050
Esophageal Atresia
Growth delay, Tetralogy of Fallot, Failure to thrive in infancy, Pallor, Ventricular septal defec... ORPHA:1199
Fanconi Anemia, Complementation Group C
Anemic pallor, Short stature, Flexion contracture, Intrauterine growth retardation, Ventricular s... OMIM:227645
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Sheehan Syndrome
Orthostatic hypotension, Bradycardia, Dry skin, Obesity, Palpitations, Pallor ORPHA:91355
Isotretinoin-Like Syndrome
Postnatal growth retardation, Abnormal cardiac ventricle morphology, Intrauterine growth retardat... ORPHA:2306
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Refractory Anemia With Excess Blasts
Palpitations, Anemic pallor, Retinal hemorrhage ORPHA:86839
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Redundant skin, Right bundle branch block, Hypertrophic cardiomyopathy,... OMIM:617403
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Growth delay, Elevated hepatic iron concentration, Splenomegaly, Pallor OMIM:615234
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Hypertension, Hypertensive crisis, Pallor ORPHA:544482
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemic pallor, Short stature, Abnormal heart morphology, Patent ductus arterios... OMIM:227646
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatos... ORPHA:331206
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Macrono... OMIM:557000
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Increased circulating lactate dehydrogenase concentration... ORPHA:99827
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Distal arthrogryposis, Skeletal muscle atrophy, Cardiomegaly, Myopathy ORPHA:42
Multiple Endocrine Neoplasia Type 2
Hypertension associated with pheochromocytoma, Hypertensive crisis, Proximal amyotrophy, Palpitat... ORPHA:653
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Pearson Syndrome
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... ORPHA:699
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:266500
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Atrial reentry tachycar... OMIM:270100
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema, Inability to walk ORPHA:439218
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Parathyroid Carcinoma
Pancreatitis, Shortened QT interval, Weight loss, Pancreatic adenocarcinoma ORPHA:143
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri... ORPHA:2255
Hemochromatosis, Type 1
Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Cold Agglutinin Disease
Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect... ORPHA:391665
Pituitary Apoplexy
Pallor, Hypertension, Hypotension ORPHA:95613
Prolactinoma
Delayed puberty, Pallor, Hypotension ORPHA:2965
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
Truncus Arteriosus
Transposition of the great arteries, Aortic regurgitation, Tachycardia, Abnormal heart valve morp... ORPHA:3384
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati... OMIM:231005
Non-Functioning Pituitary Adenoma
Pallor, Hypotension ORPHA:91349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Growth delay, Elevated hepatic iron conc... ORPHA:300298
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Adenohypophysitis
Pallor, Orthostatic hypotension ORPHA:95512
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Cardiomegaly, Exercise-induced rhabdomyolysis, Hepatomegaly, Hypertrophic cardiomyopathy 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
Hematemesis, Neoplasm of the pancreas, Melena, Hypertension, Insulinoma, Shortened QT interval, W... ORPHA:652
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
Incontinentia Pigmenti
Retinal hemorrhage, Pallor, Erythema, Short stature OMIM:308300
Senior-Loken Syndrome 8
Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Shortened QT interval, Pancreatic adenocarcinoma ORPHA:99880
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect, Facial hypotonia OMIM:618798
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Pallor, Hepatitis OMIM:194380
Myelofibrosis
Splenomegaly, Purpura, Hepatomegaly, Pallor OMIM:254450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Ventricular septal defect, Flexion contracture, Hypertrophic cardiomyopathy OMIM:616897
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Woodhouse-Sakati Syndrome
Scaling skin, Delayed puberty, Growth delay, Choreoathetosis, Abnormal T-wave ORPHA:3464
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent ductus arteriosus, Patent foramen ovale, Double inle... OMIM:619702
Lethal Congenital Contracture Syndrome 10
Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overriding aorta, Vent... OMIM:617022
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Letterer-Siwe Disease
Pallor, Jaundice, Hepatosplenomegaly OMIM:246400
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Postnatal growth retardation, Pulmonary arterial hypertension, Short stature, Secundum atrial sep... OMIM:613355
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Hematochezia ORPHA:329971
Fucosidosis
Cardiomegaly, Hepatomegaly, Decreased muscle mass ORPHA:349
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly, Macroglossia OMIM:268800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Limb muscle weakness 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
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Prolonged neonatal jaundice, Pallor, Jaundice, Splenomegaly OMIM:300908
Tay-Sachs Disease
Pallor OMIM:272800
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomyopathy, Decreased muscle mass, Splenomegaly, Cardiomegaly ORPHA:465508
Retinitis Pigmentosa 75
Pallor OMIM:617023
Elliptocytosis 1
Pallor, Jaundice, Splenomegaly OMIM:611804
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Camptodactyly of toe, Cardiomyopathy ORPHA:158687
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of toe, Joint contracture of the 5th finger, Elbow flexion cont... OMIM:602782
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Heart block, Hepatomegaly, Abnorm... ORPHA:797
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Childhood Absence Epilepsy
Pallor ORPHA:64280
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Atrial septal defect ORPHA:79330
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave OMIM:241080
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elbow flexion contracture, Knee flexion contracture, Cardiomegaly,... OMIM:608836
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy 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
Congenital diaphragmatic hernia, Bicuspid aortic valve, Patent foramen ovale, Elbow flexion contr... OMIM:245600
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Arthrogryposis multiplex congenita OMIM:608013
Aregenerative Anemia
Pallor ORPHA:101096
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature ORPHA:2463
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Arthrogryposis multiplex congenita, Cardiomegaly, Macr... OMIM:618143
Fucosidosis
Hepatomegaly, Generalized amyotrophy, Flexion contracture, Splenomegaly, Cardiomegaly, Macroglossia OMIM:230000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Pallor OMIM:253280
Goodpasture Syndrome
Pallor, Pulmonary hemorrhage, Weight loss OMIM:233450
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Diastasis recti, Hypertrophic cardiomyopathy, Camptodactyly, Splen... OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomyopathy, Diastasis recti, Pancreatic hyperplasia, Cardiomeg... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect, Macroglossia ORPHA:96191
Bohring-Opitz Syndrome
Facial hypotonia, Bilateral wrist flexion contracture, Congenital contracture, Lower limb hyperto... ORPHA:97297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly OMIM:618278
Abetalipoproteinemia
Cardiomegaly, Distal lower limb muscle weakness, Hepatomegaly, Myopathy ORPHA:14
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Limb hypertonia OMIM:620371
Ogden Syndrome
Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,... OMIM:300855
Aicardi-Goutières Syndrome
Myositis, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly, Multiple joint contractures ORPHA:51
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Flexion contracture of toe, Elbow flexion contracture, Camptodactyly of finger, Fle... OMIM:256040
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Hepatomegaly, Rhabdomyosarcoma, Leiomyosarcoma,... ORPHA:116
Autoinflammatory Disease, Systemic, With Vasculitis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:620376
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atrial septal defect, Ventricular septal defect ORPHA:3472
Liver Disease, Severe Congenital
Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity... OMIM:619991
Williams Syndrome
Abnormal endocardium morphology, Cardiomegaly, Macroglossia, Hypertrophic cardiomyopathy, Pulmoni... ORPHA:904
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Tendon rupture, Muscle fiber atrophy, Aortic v... OMIM:182250
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, 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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