Gene Summary

Name:
protein tyrosine phosphatase, non-receptor type 18
Synonyms:
PTP-HSCF,  HSCF,  PTP-K1,  Ptpk1,  FLP1

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
decreased erythrocyte cell number Ptpn18em1(IMPC)J HET   Early adult 4.92×10-05
abnormal placement of pupils Ptpn18em1(IMPC)J HET Early adult 6.12×10-05
preweaning lethality, incomplete penetrance Ptpn18em1(IMPC)J HOM   Early adult 0.00
cataract Ptpn18em1(IMPC)J HET Early adult 4.39×10-06
persistence of hyaloid vascular system Ptpn18em1(IMPC)J HET Early adult 7.73×10-08
prolonged RR interval Ptpn18em1(IMPC)J HOM Early adult 9.07×10-05
decreased heart rate Ptpn18em1(IMPC)J HOM Early adult 1.06×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Forepaw

7 Images

Eye Morphology

Images Ophthalmoscopy

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Electroretinography 3

Fundus file

5 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

11 Images

Electrocardiogram (ECG)

Waveform Image

32 Images

Human diseases caused by Ptpn18 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 Ptpn18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract OMIM:618660
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Trichomegaly
Cataract OMIM:190330
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iri... OMIM:106210
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Nathalie Syndrome
Cataract ORPHA:2663
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
X-Linked Retinoschisis
Cataract ORPHA:792
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Cataract, Hepatosplenomegaly OMIM:273680
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea OMIM:615877
Coats Disease
Cataract, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Retinal nonattachment, Microcornea, Posterior synechiae of the anterior chamber, Persis... OMIM:221900
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Coats Disease
Leukocoria, Exudative retinal detachment OMIM:300216
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... OMIM:180500
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Cataract 21, Multiple Types
Microcornea, Peters anomaly, Cortical pulverulent cataract, Cerulean cataract, Retinal detachment... OMIM:610202
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Norrie Disease
Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... OMIM:310600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Abnormality of retinal pigmentation, Retinal atrophy, Coloboma, Corneal opacity... ORPHA:85167
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Galactosemia Ii
Cataract OMIM:230200
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Tractional retinal detachme... ORPHA:91495
Facial Spasm
Anisocoria OMIM:134300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Galactosemia Iv
Cataract OMIM:618881
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Cataract, Chorioretinal atrophy, Retinal... OMIM:143200
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina OMIM:613801
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Cataract, Lens subluxation, Retinal detachment OMIM:614292
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Cataract 47
Cataract, Microcornea OMIM:612018
Retinitis Pigmentosa 84
Cataract, Bone spicule pigmentation of the retina, Macular coloboma, Macular atrophy OMIM:618220
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Keratoconus, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Retinal detachment, Z... ORPHA:39044
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Optic disc coloboma, Ectopia pupillae, Retinal atrophy, Corneal opacity, Macular atrophy, Lens su... OMIM:608940
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Aniridia 3
Cataract, Aniridia OMIM:617142
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Anterior chamber inflammatory cells, ... ORPHA:263479
Retinitis Pigmentosa 9
Cataract, Bone spicule pigmentation of the retina, Macular atrophy OMIM:180104
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Stickler Syndrome Type 2
Cataract, Retinal detachment, Corneal opacity ORPHA:90654
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Nathalie Syndrome
Cataract OMIM:255990
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Morm Syndrome
Cataract, Retinal atrophy ORPHA:75858
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Illum Syndrome
Bradycardia OMIM:208155
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:613731
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Ectopia pupillae, Hypoplasia of the iris, Peripapillary atrophy, Astigmatism, Cornea... OMIM:175780
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Proximal Myotonic Myopathy
Cataract ORPHA:606
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae OMIM:618223
Microphthalmia, Isolated 5
Cataract, Optic disc drusen, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal ... OMIM:611040
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract, Thrombocytopenia ORPHA:67048
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Abnormality iris morphology ORPHA:1617
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Cone-Rod Dystrophy 16
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Macular atrophy OMIM:614500
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Proteus-Like Syndrome
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Reti... ORPHA:2969
Stickler Syndrome, Type V
Cataract, Retinal detachment OMIM:614284
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Alexander Disease
Microcoria OMIM:203450
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Leber Congenital Amaurosis 2
Optic disc pallor, Pigmentary retinopathy, Keratoconus, Cataract OMIM:204100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Nephronophthisis 11
Anemia, Anisocoria, Retinal degeneration OMIM:613550
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Short Syndrome
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... ORPHA:3163
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Abnormal choroid morph... ORPHA:179
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dysplasia, Optic... OMIM:251270
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Abnormality of retinal pigmentation, Cataract ORPHA:65
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Usher Syndrome Type 3
Iris hypopigmentation, Cataract, Astigmatism ORPHA:231183
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Cataract 48
Cataract OMIM:618415
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Congenital Rubella Syndrome
Cataract, Abnormality of retinal pigmentation, Splenomegaly, Aplasia/Hypoplasia of the iris, Thro... ORPHA:290
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma OMIM:601794
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Neonatal death, Bradycardia OMIM:620351
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Iris coloboma, Ectopia pupillae OMIM:194190
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Exudative Vitreoretinopathy 6
Cataract, Nuclear cataract, Tractional retinal detachment, Chorioretinal atrophy, Retinal detachm... OMIM:616468
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312600
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Aplasia/Hypoplasia affecting the anterior seg... ORPHA:83461
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal degeneration, Chorioretinal ... ORPHA:414
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Heterochromia iridis, Corneal opacity, Corneal erosion ORPHA:1764
Mowat-Wilson Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma OMIM:235730
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Abnormal anterior eye segment morphology, Per... ORPHA:67042
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
D-Glyceric Aciduria
Bradycardia OMIM:220120
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Revesz Syndrome
Aplastic anemia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia OMIM:268130
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Cataract, Microcornea, Retinal coloboma, Ectopia pupillae, Abnormal pupil morpholo... ORPHA:261552
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Retinitis Pigmentosa 97
Macular degeneration, Iris atrophy OMIM:620422
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia ORPHA:45358
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Sclerocornea, Iris coloboma ORPHA:139471
Knobloch Syndrome 1
Band keratopathy, Peripapillary atrophy, Chorioretinal atrophy, Retinal detachment, Cortical cata... OMIM:267750
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Encephalitis Lethargica
Bradycardia ORPHA:83600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane OMIM:257850
Norrie Disease
Optic atrophy, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Retin... ORPHA:649
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Anisocoria OMIM:231550
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Cataract, Microcornea, Coloboma OMIM:617306
Intestinal Botulism
Mydriasis ORPHA:178481
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology, Increased cup-to-disc ratio, O... ORPHA:98977
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest OMIM:277400
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocy... OMIM:259720
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Lujo Hemorrhagic Fever
Hypotension, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Abnormality of retinal pigmentation, Heteroch... ORPHA:790
Miller Fisher Syndrome
Mydriasis, Anisocoria ORPHA:98919
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Retinoblastoma
Leukemia, Retinal calcification, Leukocoria OMIM:180200
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Iatrogenic Botulism
Mydriasis ORPHA:254509
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion OMIM:614878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... OMIM:614643
Wound Botulism
Mydriasis ORPHA:178475
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Alport Syndrome 2, Autosomal Recessive
Anterior lenticonus, Corneal erosion, Cataract OMIM:203780
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Trichinellosis
Conjunctival hyperemia, Anisocoria, Retinal hemorrhage, Conjunctivitis, Abnormal uvea morphology ORPHA:863
Inhalational Botulism
Mydriasis ORPHA:254504
Microphthalmia, Syndromic 5
Cataract, Microcornea, Coloboma, Optic nerve hypoplasia OMIM:610125
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar, Anterior u... ORPHA:279914
Atelis Syndrome 2
Anemia, Developmental cataract, Thrombocytopenia, Remnants of the hyaloid vascular system OMIM:620185
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy OMIM:268100
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Cataract, Abnormal pupil morphology, Thrombocytopenia, Corneal opacity, Anemia, Buph... ORPHA:534
Botulism
Mydriasis ORPHA:1267
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Foodborne Botulism
Mydriasis ORPHA:228371
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Bradycardia OMIM:617248
Scalp-Ear-Nipple Syndrome
Cataract, Anisocoria, Iris coloboma, Developmental cataract OMIM:181270
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Anisocoria ORPHA:99949
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria OMIM:615510
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment ORPHA:1556
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Neonatal death, Pulmonary arterial hypertension, Bradycardia, Pulmonary ... OMIM:614437
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... ORPHA:79098
Pituitary Apoplexy
Mydriasis, Normochromic anemia ORPHA:95613
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Serotonin Syndrome
Mydriasis ORPHA:43116
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Superficial Siderosis
Anisocoria ORPHA:247245
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Anisocoria OMIM:618653
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Blue irides, Remnants of the hyaloid vascular system, Stel... OMIM:619539
Smooth Muscle Dysfunction Syndrome
Mydriasis OMIM:613834
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system ORPHA:637
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Optic nerve compression, Optic neuropathy OMIM:619727
Arachnoid Cyst
Mydriasis ORPHA:2356
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Alternating Hemiplegia Of Childhood
Mydriasis ORPHA:2131
Witteveen-Kolk Syndrome
Cataract, Anisocoria, Iris coloboma OMIM:613406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Mydriasis OMIM:619351
Microphthalmia, Syndromic 2
Microcornea, Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract,... OMIM:300166
Sponastrime Dysplasia
Cataract, Microcoria, Neutropenia, Congenital aphakia ORPHA:93357
Cocaine Intoxication
Mydriasis ORPHA:90068
Holoprosencephaly 2