Gene Summary

Name:
transducin-like enhancer of split 3
Synonyms:
2610103N05Rik,  ESG,  Grg3a,  Grg3b

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Tle3em1(IMPC)Mbp HOM Early adult 0.00
persistence of hyaloid vascular system Tle3em1(IMPC)Mbp HOM Early adult 3.21×10-06
cataract Tle3em1(IMPC)Mbp HOM   Early adult 5.33×10-07
increased heart rate Tle3em1(IMPC)Mbp HOM Early adult 8.48×10-05
decreased brain size Tle3em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Tle3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Tle3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tle3 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 Tle3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic hypoplasia OMIM:260370
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Juvenile cataract, Arrhythmia OMIM:212500
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Pancreatic Agenesis 2
Pancreatic hypoplasia OMIM:615935
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
His Bundle Tachycardia
Cardiomyopathy, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract ORPHA:79281
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Martinez-Frias Syndrome
Intrauterine growth retardation, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary du... OMIM:601346
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Intrauterine growth retardation, Acholic stools, Annular pancreas, Absent ... OMIM:615710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Coproporphyria, Hereditary
Hepatomegaly, Hypertension, Tachycardia, Splenomegaly, Jaundice OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Hepatomegaly, Cataract OMIM:607906
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Matthew-Wood Syndrome
Intrauterine growth retardation, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal s... ORPHA:2470
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Intrauteri... OMIM:610199
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Galactosemia Iv
Prolonged neonatal jaundice, Cataract OMIM:618881
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Variegate Porphyria
Tachycardia OMIM:176200
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly ORPHA:90037
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia OMIM:609069
Galactosemia Ii
Prolonged neonatal jaundice, Cataract OMIM:230200
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Dextrocardia
Abnormality of abdominal situs, Abnormality of the spleen, Pancreatic hypoplasia ORPHA:1666
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Tularemia
Conjunctival hyperemia, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopa... ORPHA:3392
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Mody
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Pancreatic hypoplasia, Hepato... ORPHA:552
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Focal pancreatic islet hyperplasia, Palpitati... ORPHA:276575
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Retinal degeneration, Bradycardia, Sick sinus syndrome OMIM:617173
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular arrhythmia OMIM:601493
Trichomegaly
Cataract OMIM:190330
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Leber Hereditary Optic Neuropathy
Optic atrophy, Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Iris coloboma, Remnants of the hyaloid vascular sys... ORPHA:231736
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Palpitations, Tachycardia, Diffuse pancreatic... ORPHA:276580
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Autoimmune hemolytic anemia, Congestive he... ORPHA:90033
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Cataract, Splenomegaly ORPHA:79238
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract OMIM:618220
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogenic pancreas, Abnormal liver parench... ORPHA:456312
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Congestive heart failure, Ventricular arrhythmia OMIM:613424
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism ORPHA:2849
Congenital Fibrinogen Deficiency
Splenic rupture, Internal hemorrhage, Tachycardia, Developmental cataract ORPHA:335
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Tachycardia ORPHA:276608
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Histiocytoid Cardiomyopathy
Optic atrophy, Hepatomegaly, Atrial fibrillation, Ventricular tachycardia, Congenital aphakia, At... ORPHA:137675
Acquired Methemoglobinemia
Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia ORPHA:464453
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Pancreatic hypoplasia, Reduced pancreatic beta cells ORPHA:99885
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Syncope, Tachycardia ORPHA:324575
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Iris coloboma, Retinal detachment, Cataract OMIM:212550
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Coats Disease
Retinal detachment, Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Cataract, Pulmonary embolism... ORPHA:1345
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... ORPHA:103918
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Myotonic Dystrophy 2
Palpitations, Iridescent posterior subcapsular cataract, Tachycardia OMIM:602668
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Atrial fibrillation, Mitral regurgitation, Ventric... OMIM:604169
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optic atrophy, Peripheral tractional retinal detachment, Cata... OMIM:143200
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism ORPHA:261265
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Snakebite Envenomation
Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic shock, Myocardial... ORPHA:449285
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Paroxysmal atrial tachycardia, Tricuspid regurgit... OMIM:614022
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Syncope, Lymphadenopat... ORPHA:98849
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Tractional retinal detachment, Shallow anterior chamb... ORPHA:91495
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Retroperitoneal fibrosis, Splenomegaly, Hepatosplenomegaly, ... OMIM:602782
Jervell And Lange-Nielsen Syndrome
Syncope, Iron deficiency anemia, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricu... ORPHA:90647
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Tachycardia, Pigmentary retinopathy ORPHA:79264
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Pancreatic Agenesis-Holoprosencephaly Syndrome
Pancreatic aplasia, Intrauterine growth retardation, Absent gallbladder ORPHA:556955
Complete Atrioventricular Septal Defect
Right ventricular failure, Hepatomegaly, Left-to-right shunt, Abnormal P wave, Systolic heart mur... ORPHA:1329
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Intrauterine growth retardation, Aplasia/Hypoplasia of the gallbladder, An... ORPHA:2255
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Campomelia, Cumming Type
Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract OMIM:120433
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Persistent pupillary membrane, Iris... OMIM:221900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive he... ORPHA:49827
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Cataract, Arrhythmia OMIM:606069
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Tako-Tsubo Cardiomyopathy
Syncope, Hypertension, Prolonged QT interval, Decreased QRS voltage, Ventricular arrhythmia, Mitr... ORPHA:66529
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Stickler Syndrome Type 2
Retinal detachment, Corneal opacity, Cataract ORPHA:90654
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Tachycardia, Hepatosplenomegaly... ORPHA:71275
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Tachycardia, Neutrophilia, Thrombocytopenia, Hypoten... ORPHA:91547
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy OMIM:600649
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Familial Dysautonomia
Optic atrophy, Hypertension, Corneal erosion, Orthostatic hypotension, Abnormality of the periton... ORPHA:1764
Senior-Loken Syndrome
Congenital hepatic fibrosis, Hypertension, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Leber Congenital Amaurosis 1
Hepatomegaly, Keratoconus, Cataract, Pigmentary retinopathy OMIM:204000
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Biliary tract abnormality, Pancreatic hypoplasia OMIM:137920
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Aniridia, Sclerocornea, Congenital aphakia, Peters anomaly, Post... OMIM:610256
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Atrial fibrillation, Tachycardia, Bradycardia, Splenomegaly,... OMIM:613327
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Ventricular escape rhythm, Bradycardia, Keratoconus, Prolonged PR interval,... ORPHA:542306
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... OMIM:171420
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy OMIM:204100
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract OMIM:616468
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatomegaly, Prolonged QT interval, Ventricular tachycardia, Atrioventri... ORPHA:26793
Shwachman-Diamond Syndrome
Hepatomegaly, Pancreatic hypoplasia, Hypopituitarism, Exocrine pancreatic insufficiency, Decrease... ORPHA:811
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation OMIM:614292
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive hea... ORPHA:860
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Cataract OMIM:180104
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia ORPHA:90036
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Carney Triad
Hypertension, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Tachycardia, Gastrointestinal... ORPHA:139411
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis OMIM:557000
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Pheochromocytoma
Episodic hypertension, Cerebral hemorrhage, Developmental cataract, Tachycardia, Congestive heart... OMIM:171300
Heart Defects, Congenital, And Other Congenital Anomalies
Intrauterine growth retardation, Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Umbi... OMIM:600001
Tropical Endomyocardial Fibrosis
Splenomegaly, Abnormal EKG, Eosinophilia, Abnormal P wave, Reduced ejection fraction, Mitral regu... ORPHA:75565
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Developmental cataract, Congestive heart failure, Wolff-Parkinson-White syndrome, A... OMIM:540000
Norrie Disease
Optic atrophy, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris, Retinal detac... OMIM:310600
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy OMIM:613731
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Pancreatic hypoplasia, Intrauterine growth retardation, Cholelithiasis, Biliary hyp... ORPHA:83617
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Peters anomaly, Optic disc coloboma, Corneal opacity, Remnants of the hya... OMIM:120200
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Tachycardia, Heart block, Arrhythmia, Hypotension, Capillary leak ORPHA:542323
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Spleno... ORPHA:290
Hereditary Coproporphyria
Tachycardia, Hepatocellular carcinoma ORPHA:79273
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:168000
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Corneal guttata, Cataract OMIM:193230
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Anemia, Tachycardia, Bradycardia, Splenomegaly, Thromboc... ORPHA:90051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Ventricular... OMIM:600996
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Increased hepatic glycogen content, Hepatitis, Aborted sudd... OMIM:614921
Crimean-Congo Hemorrhagic Fever
Myocarditis, Subdural hemorrhage, Lymphadenopathy, Melena, Splenomegaly, Acute pancreatitis, Panc... ORPHA:99827
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia, Catarac... OMIM:618805
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Tachycardia OMIM:614653
Galactose Mutarotase Deficiency
Hepatomegaly, Cataract, Cholestasis ORPHA:570422
Hyperinsulinism Due To Hnf4A Deficiency
Pancreatic islet-cell hyperplasia, Hepatomegaly, Tachycardia, Increased hepatic glycogen content ORPHA:263455
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Double Outlet Right Ventricle
Heart murmur, Tachycardia, Aplasia/Hypoplasia of the thymus, Pulmonic stenosis ORPHA:3426
Tetanus
Hypertension, Bradycardia, Tachycardia ORPHA:3299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Optic atrophy, Abnormality of retinal pigmentation, Leukopenia, Mitr... ORPHA:505248
Feingold Syndrome
Abnormality of the spleen, Annular pancreas ORPHA:1305
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy OMIM:312600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Cirrhotic Cardiomyopathy
Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Pro... ORPHA:57777
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Aniridia 2
Aniridia, Cataract OMIM:617141
Graft Versus Host Disease
Lymphadenopathy, Tachycardia, Acute hepatitis, Hepatosplenomegaly, Chronic hepatitis, Hemophagocy... ORPHA:39812
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Cataract 47
Microcornea, Cataract OMIM:612018
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia, Corneal ulceration, Recurrent corneal erosion... OMIM:223900
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia OMIM:229700
Scorpion Envenomation
Mydriasis, Prominent U wave, Myocarditis, Hypertension, Premature ventricular contraction, Cardia... ORPHA:466677
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
16P12.1P12.3 Triplication Syndrome
Abnormality of the intrahepatic bile duct, Tachycardia ORPHA:485405
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Cocaine Intoxication
Mydriasis, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tach... ORPHA:90068
Stiff-Person Syndrome
Hypertension, Anemia, Tachycardia OMIM:184850
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... ORPHA:67043
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Gracile Bone Dysplasia
Aniridia, Hypoplastic spleen, Asplenia OMIM:602361
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Atrioventricular block, Left bundle branch bl... OMIM:115197
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Optic atrophy, Ventricular tachycardia, Torsade de pointes, Prolonge... OMIM:616878
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Tachycardia, Cholesterol gallstones, Abnor... ORPHA:521219
Sick Sinus Syndrome 2
Sinus bradycardia, Atrial fibrillation, Aortic regurgitation, Cardiac arrest, Sick sinus syndrome... OMIM:163800
Weill-Marchesani Syndrome
Mitral regurgitation, Ectopia lentis, Pulmonic stenosis, Cataract, Aortic valve stenosis ORPHA:3449
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Hepatocellular carcinoma OMIM:176000
Serotonin Syndrome
Mydriasis, Hypertension, Tachycardia, Hypotension ORPHA:43116
Bacterial Toxic-Shock Syndrome
Myocarditis, Shock, Increased circulating myelocyte count, Peritonitis, Hepatitis, Tachycardia, I... ORPHA:36234
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Porphyria Variegata
Hypertension, Hepatocellular carcinoma, Anemia, Tachycardia, Abnormality of the liver ORPHA:79473
Ebstein Anomaly
Atrial standstill, Atrial fibrillation, Ventricular preexcitation, Right bundle branch block, Sud... OMIM:224700
Myotonic Dystrophy 1
Atrial fibrillation, Cholelithiasis, Atrial flutter, Cataract, First degree atrioventricular block OMIM:160900
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Abnormal atrioventricular co... ORPHA:216694
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Cataract, Hemolytic anemia, Jaundice OMIM:608885
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Arrhythmia, Hypotension ORPHA:159
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Tachycardia ORPHA:348
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Neuroleptic Malignant Syndrome
Leukocytosis, Hypertension, Thrombocytosis, Hypertensive crisis, Tachycardia, Bradycardia, Pulmon... ORPHA:94093
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly OMIM:617941
Autoimmune Hypoparathyroidism
Prolonged QT interval, Ventricular arrhythmia, Cataract, Abnormal left ventricular function, Conj... ORPHA:36913
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Increased pulmon... ORPHA:97214
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fi... ORPHA:449432
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Shock, Pericarditis, Leukopenia, Lymphadenopathy, Neutrophilia in presenc... ORPHA:99826
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Ethylene Glycol Poisoning
Shock, Hypertension, Prolonged QT interval, Atrial fibrillation, Tachycardia, Congestive heart fa... ORPHA:31826
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Aortic regurgitation, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia ORPHA:309288
Ogden Syndrome
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, Torsade... OMIM:300855
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas OMIM:618162
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Congestive heart failure, Bradycardia, Myocarditis OMIM:617222
Aceruloplasminemia
Abnormal pancreas morphology, Elevated hepatic iron concentration ORPHA:48818
Hemorrhagic Fever-Renal Syndrome
Shock, Leukocytosis, Hypertension, Intracranial hemorrhage, Palpitations, Subconjunctival hemorrh... ORPHA:340
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Hepatic fibrosis OMIM:200995
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Ventricular arrhythmia OMIM:613426
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Anemia, Tachycardia ORPHA:71273
Proximal Myotonic Myopathy
Cataract ORPHA:606
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Cataract, Exo... OMIM:269200
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Pearson Syndrome
Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Corneal stromal edema, Cardi... ORPHA:699
Atelosteogenesis Type I
Abnormal pancreatic duct morphology ORPHA:1190
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Supraventricular tachycardia, High-output congestive heart fai... ORPHA:423
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Cataract, Coloboma, Microcornea, Ectopia pupillae OMIM:615877
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis OMIM:616263
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:115310
Plague
Mydriasis, Hepatomegaly, Enlarged mesenteric lymph node, Conjunctival hyperemia, Lymphadenitis, T... ORPHA:707
Acute Intermittent Porphyria
Hypertension, Tachycardia, Hepatocellular carcinoma ORPHA:79276
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... ORPHA:2969
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Agel Amyloidosis
Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy,... ORPHA:85448
Absence Of The Pulmonary Artery
Reduced ejection fraction, Systolic heart murmur, Atrial fibrillation, Pulmonary arterial hyperte... ORPHA:980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Optic nerve hypoplasia, Peters anomaly, Retinal detachment, Cataract, Remnants... OMIM:614643
Cardiac Diverticulum
Premature ventricular contraction, Syncope, Tricuspid stenosis, Palpitations, Ventricular tachyca... ORPHA:1686
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal colobom... OMIM:612109
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Hepatic fibrosis, Bile duct proliferation, Polycystic liver disease, Pancreatic... OMIM:208500
Alport Syndrome 2, Autosomal Recessive
Hypertension, Cataract, Corneal erosion, Anterior lenticonus OMIM:203780
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cryptorchidism, Hepatoblastoma, Pancreatic hyperplasia OMIM:130650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Hepatomegaly, Ventricular arrhythmia, Pancreatitis, Splenomegaly, Ab... ORPHA:280365
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Aniridia, Hypoplasia of the iris,... OMIM:106210
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Mirage Syndrome
Intracranial hemorrhage, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Degcags Syndrome
Hepatomegaly, Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Pulmonary arteri... OMIM:619488
Gitelman Syndrome
Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia OMIM:263800
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Heart block ORPHA:1964
Feingold Syndrome 1
Accessory spleen, Polysplenia, Asplenia, Annular pancreas OMIM:164280
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Hypoplasia of the retina, Cataract OMIM:263100
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Keratoconjunctivitis sicca, Abnormal cardiac ventricular function... ORPHA:797
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Supraventricular tachycardia with an accessory connection mediated pathway, Tri... ORPHA:404443
Stromme Syndrome
Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Iris coloboma, Accessory spleen, Cataract, ... OMIM:243605
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Intrauterine growth retardation, Annular pancreas ORPHA:488642
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular ... ORPHA:98853
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac death, ... ORPHA:98855
Microphthalmia, Syndromic 9
Pulmonic stenosis, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular arrhythmia, Atrial fibrillation, P... ORPHA:254892
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventricular block, Sudden cardiac de... ORPHA:98863
Jacobsen Syndrome
Cryptorchidism, Intrauterine growth retardation, Annular pancreas OMIM:147791
Yellow Fever
Jaundice, Acute pancreatitis, Pancreatic hyperplasia ORPHA:99829
Meckel Syndrome
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... ORPHA:564
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Developmental glaucoma ORPHA:1772
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hepatic fibrosis OMIM:263520
Truncus Arteriosus
Aortic regurgitation, Hypoplasia of the thymus, Tachycardia, Pulmonic stenosis, Abnormal heart va... ORPHA:3384
Legius Syndrome
Paroxysmal atrial tachycardia, Cataract, Pulmonic stenosis, Acute monocytic leukemia ORPHA:137605
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pseudohypoparathyroidism, Abnormal pancreas morpholog... ORPHA:116
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Posterior subcapsular cataract, Atrial fibrillation, Cardiac conduction a... ORPHA:273
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system, Cortical cataract, Posterior subcapsular cataract ORPHA:637
Neuroocular Syndrome
Blue irides, Lens coloboma, Stellate iris, Brushfield spots, Peters anomaly, Iris coloboma, Catar... OMIM:619539
Microphthalmia, Syndromic 2
Developmental cataract, Iris coloboma, Pulmonic stenosis, Retinal detachment, Remnants of the hya... OMIM:300166
Tsh-Secreting Pituitary Adenoma
Hypertension, Ventricular arrhythmia, Palpitations, Congestive heart failure, Supraventricular ar... ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Hepatomegaly, Mitral regurgitation, Low-output congestive heart failur... ORPHA:99125

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 Tle3

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 Tle3.

No publications found that use IMPC mice or data for Tle3.

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MGI Allele Allele Type Produced
Tle3tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tle3em1(IMPC)Mbp Exon Deletion Mice

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