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Gene: Nhs MGI:2684894

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Gene Summary

Name:
NHS actin remodeling regulator
Synonyms:
LOC195727,  Nance-Horan syndrome (human),  LOC245686

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Nhsem1(IMPC)Tcp HEM Early adult 4.44×10-12
decreased exploration in new environment Nhsem1(IMPC)Tcp HEM Early adult 6.35×10-05
increased startle reflex Nhsem1(IMPC)Tcp HOM Early adult 4.26×10-10
shortened QRS complex duration Nhsem1(IMPC)Tcp HOM Early adult 9.83×10-06

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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

10 Images

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Eye Morphology

Images Slit Lamp

60 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Histopathology

Images

5 Images

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Human diseases caused by Nhs 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.

The table below shows human diseases associated to Nhs by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Nance-Horan Syndrome
Microcornea, Cataract ORPHA:627
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350

The table below shows human diseases predicted to be associated to Nhs by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
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
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 7
Developmental cataract OMIM:115660
Trichomegaly
Cataract OMIM:190330
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Nathalie Syndrome
Cataract ORPHA:2663
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Galactosemia Iv
Cataract OMIM:618881
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Foveal Hypoplasia 1
Presenile cataracts OMIM:136520
Cataract-Ataxia-Deafness-Retardation Syndrome
Developmental cataract OMIM:212710
X-Linked Retinoschisis
Cataract ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Galactosemia Ii
Cataract OMIM:230200
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Nathalie Syndrome
Cataract OMIM:255990
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Cataract 47
Microcornea, Cataract OMIM:612018
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Dysequilibrium Syndrome
Cataract ORPHA:1766
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Proximal Myotonic Myopathy
Cataract ORPHA:606
Myopia 17, Autosomal Dominant
Presenile cataracts OMIM:608367
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract ORPHA:85163
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Cataract-Deafness-Hypogonadism Syndrome
Developmental cataract ORPHA:1383
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Developmental cataract ORPHA:1375
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Retinitis Pigmentosa 40
Cataract OMIM:613801
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Pellagra-Like Syndrome
Cataract OMIM:260650
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract OMIM:614882
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract OMIM:246000
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Autosomal Recessive Spastic Paraplegia Type 69
Cataract ORPHA:401830
Aniridia 3
Aniridia, Cataract OMIM:617142
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Leukoencephalopathy With Vanishing White Matter 2
Cataract OMIM:620312
Cataract 48
Cataract OMIM:618415
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract OMIM:609115
Hyperferritinemia With Or Without Cataract
Nuclear cataract, Pulverulent cataract OMIM:600886
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Congenital Varicella Syndrome
Cataract ORPHA:291
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract OMIM:611544
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract ORPHA:85288
Retinitis Pigmentosa 9
Cataract OMIM:180104
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Peroxisome Biogenesis Disorder 8A (Zellweger)
Cataract OMIM:614876
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Retinitis Pigmentosa 84
Cataract, Macular coloboma OMIM:618220
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Xeroderma Pigmentosum, Complementation Group G
Cataract OMIM:278780
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract ORPHA:1373
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... OMIM:604307
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Developmental cataract OMIM:147630
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Cataract ORPHA:2528
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
X-Linked Immunoneurologic Disorder
Cataract ORPHA:2571
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... OMIM:610202
Galactose Epimerase Deficiency
Cataract ORPHA:79238
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cataract 24
Anterior polar cataract OMIM:601202
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Wagner Vitreoretinopathy
Cataract OMIM:143200
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Hypoplastic iris ... ORPHA:2334
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract ORPHA:1875
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma ORPHA:1473
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Developmental And Epileptic Encephalopathy 35
Cataract OMIM:616647
Morning Glory Disc Anomaly
Optic disc coloboma, Cataract ORPHA:35737
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Stickler Syndrome, Type V
Cataract OMIM:614284
Morm Syndrome
Cataract ORPHA:75858
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract OMIM:116600
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Developmental cataract OMIM:600559
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Achromatopsia 3
Cataract OMIM:262300
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Supernumerary Nostril
Microcornea, Developmental cataract ORPHA:141096
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract OMIM:618392
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract OMIM:615352
Intestinal Dysmotility Syndrome
Cataract OMIM:620045
Retinitis Pigmentosa 4
Cataract OMIM:613731
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Retinal coloboma OMIM:601794
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Martsolf Syndrome 2
Cataract, Developmental cataract OMIM:619420
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Cataract OMIM:608227
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma ORPHA:363741
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma OMIM:613835
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Cataract OMIM:616154
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Cone-Rod Dystrophy 16
Cataract OMIM:614500
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract ORPHA:1366
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Leber Congenital Amaurosis 2
Keratoconus, Cataract OMIM:204100
1Q21.1 Microduplication Syndrome
Cataract ORPHA:250994
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, Ectopia lentis OMIM:614819
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation ORPHA:67048
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract ORPHA:329314
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Cataract ORPHA:3433
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Stiff Skin Syndrome
Cataract OMIM:184900
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Leber Congenital Amaurosis
Keratoconus, Cataract ORPHA:65
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Microcornea, Posterior subcapsular cataract OMIM:615458
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract ORPHA:85172
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract OMIM:616108
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract ORPHA:1345
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract OMIM:617404
Microphthalmia, Isolated 5
Cataract OMIM:611040
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract ORPHA:2410
Developmental And Epileptic Encephalopathy 73
Cataract OMIM:618379
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma OMIM:212550
Cataract 23, Multiple Types
Lamellar cataract OMIM:610425
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cataract OMIM:301075
Mevalonic Aciduria
Cataract ORPHA:29
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Hereditary Leiomyomatosis And Renal Cell Cancer
Cataract ORPHA:523
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract OMIM:132450
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Ectopia lentis ORPHA:1259
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Usher Syndrome Type 1
Cataract, Iris hypopigmentation ORPHA:231169
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Senior-Loken Syndrome
Cataract ORPHA:3156
Anterior Segment Dysgenesis 5
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... OMIM:604229
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cahmr Syndrome
Lamellar cataract OMIM:211770
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Leukodystrophy, Hypomyelinating, 24
Cataract OMIM:619851
Flynn-Aird Syndrome
Cataract OMIM:136300
Crome Syndrome
Developmental cataract OMIM:218900
Peroxisome Biogenesis Disorder 10B
Cataract OMIM:617370
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Monilethrix
Cataract ORPHA:573
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Leber Congenital Amaurosis 1
Keratoconus, Cataract OMIM:204000
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Posterior subcapsular cataract OMIM:300619
Combined Oxidative Phosphorylation Deficiency 13
Cataract OMIM:614932
Infantile Spasms-Broad Thumbs Syndrome
Cataract ORPHA:3173
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Peroxisome Biogenesis Disorder 14B
Developmental cataract OMIM:614920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microcornea, Cataract OMIM:616171
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Premature Aging Syndrome, Okamoto Type
Cataract OMIM:601811
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Retinitis Pigmentosa 2
Cataract OMIM:312600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Cataract OMIM:615350
Chondrodysplasia Punctata 1, X-Linked Recessive
Cataract OMIM:302950
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Band keratopathy OMIM:604278
Autosomal Recessive Spastic Paraplegia Type 26
Cataract ORPHA:101006
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract ORPHA:1264
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Joubert Syndrome 9
Cataract, Astigmatism OMIM:612285
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1
Cataract OMIM:224050
Autosomal Recessive Stickler Syndrome
Cataract, Astigmatism ORPHA:250984
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract OMIM:251270
Hypomelanosis Of Ito
Cataract, Iris coloboma OMIM:300337
Lissencephaly 5
Cataract OMIM:615191
Microcephalic Primordial Dwarfism, Toriello Type
Cataract ORPHA:2643
Cataract 49
Posterior cortical cataract OMIM:619593
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Baralle-Macken Syndrome
Cataract OMIM:619255
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Developmental cataract ORPHA:436174
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract OMIM:614307
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Maternally-Inherited Diabetes And Deafness
Cataract ORPHA:225
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract ORPHA:414
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract OMIM:613730
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Combined Oxidative Phosphorylation Deficiency 31
Cataract OMIM:617228
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Cataract OMIM:614878
Nevus Comedonicus Syndrome
Cataract ORPHA:64754
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract OMIM:615704
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Phenylketonuria
Cataract, Blue irides OMIM:261600
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Laurence-Moon Syndrome
Cataract, Iris coloboma ORPHA:2377
Bare Lymphocyte Syndrome, Type I
Ectopia lentis OMIM:604571
Microcephaly 10, Primary, Autosomal Recessive
Cataract OMIM:615095
Familial Isolated Hypoparathyroidism
Cataract ORPHA:2238
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Enhanced S-Cone Syndrome
Cataract OMIM:268100
Nance-Horan Syndrome
Microcornea, Cataract ORPHA:627
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Subcapsular cataract, Cataract OMIM:612674
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Hemochromatosis, Type 4
Cataract OMIM:606069
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Retinitis Pigmentosa 13
Subcapsular cataract OMIM:600059
Pseudopseudohypoparathyroidism
Cataract OMIM:612463
Stickler Syndrome, Type Ii
Cataract OMIM:604841
Lissencephaly 8
Cataract OMIM:617255
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Stickler Syndrome Type 1
Cataract ORPHA:90653
Peroxisome Biogenesis Disorder 9B
Cataract OMIM:614879
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,... OMIM:310300
Microphthalmia With Brain And Digit Anomalies
Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Vogt-Koyanagi-Harada Disease
Cataract ORPHA:3437
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Cataract, Iris coloboma ORPHA:2611
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract OMIM:618805
Cerebrooculofacioskeletal Syndrome 2
Cataract, Developmental cataract OMIM:610756
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract OMIM:619780
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Cataract, Conjunctivitis OMIM:612843
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Retinitis Pigmentosa
Keratoconus, Cataract ORPHA:791
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Hereditary Mucoepithelial Dysplasia
Cataract, Corneal dystrophy ORPHA:1839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract OMIM:615351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract OMIM:615181
Achondrogenesis Type 2
Cataract, Lens subluxation ORPHA:93296
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Cataract OMIM:162400
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract OMIM:617481
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cataract ORPHA:2772
Pontocerebellar Hypoplasia, Type 16
Cataract OMIM:619527
Exudative Vitreoretinopathy 4
Subcapsular cataract OMIM:601813
Birdshot Chorioretinopathy
Cataract ORPHA:179
Rhizomelic Chondrodysplasia Punctata
Cataract ORPHA:177
X-Linked Intellectual Disability, Najm Type
Cataract, Chorioretinal coloboma ORPHA:163937
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Iris transillumination defect, Cataract, Coloboma OMIM:617306
Dystonia-Deafness Syndrome 1
Cataract OMIM:607371
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract OMIM:614872
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Anterior chamber synechiae, Band keratopathy ORPHA:85410
Exudative Vitreoretinopathy 6
Nuclear cataract, Cataract, Cortical cataract OMIM:616468
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Tortuosity of conjunctival vessels ORPHA:284289
Microphthalmia, Syndromic 5
Microcornea, Coloboma, Cataract OMIM:610125
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract ORPHA:3137
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Neonatal Adrenoleukodystrophy
Cataract ORPHA:44
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cataract ORPHA:369847
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Muscle-Eye-Brain Disease
Cataract ORPHA:588
Bardet-Biedl Syndrome 9
Astigmatism, Cataract OMIM:615986
Lymphedema-Hypoparathyroidism Syndrome
Cataract OMIM:247410
Full Schwannomatosis
Cataract ORPHA:93921
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract ORPHA:79107
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity ORPHA:290
Harlequin Ichthyosis
Cataract ORPHA:457
Classic Phenylketonuria
Cataract ORPHA:79254
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism OMIM:152950
Usher Syndrome Type 2
Cataract, Iris hypopigmentation ORPHA:231178
Galactokinase Deficiency
Nuclear cataract, Cataract ORPHA:79237
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract ORPHA:1856
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract ORPHA:370997
Cadds
Cataract ORPHA:369942
Spastic Paraplegia 9B, Autosomal Recessive
Cataract OMIM:616586
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber ORPHA:280921
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Chromosome Xp11.3 Deletion Syndrome
Posterior subcapsular cataract, Cataract OMIM:300578
Congenital Microcoria
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... ORPHA:566
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Iris coloboma ORPHA:1791
Oculoauricular Syndrome
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... OMIM:612109
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract OMIM:615418
Myotonic Dystrophy 1
Cataract OMIM:160900
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Galactosemia I
Cataract OMIM:230400
Intermediate Uveitis
Posterior synechiae of the anterior chamber, Cataract, Band keratopathy ORPHA:279914
Dahlberg-Borer-Newcomer Syndrome
Cataract ORPHA:1563
Ruijs-Aalfs Syndrome
Posterior subcapsular cataract, Cataract OMIM:616200
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae OMIM:615877
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Refsum Disease, Classic
Cataract OMIM:266500
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularization OMIM:278730
Chondrodysplasia Punctata, Autosomal Dominant
Cataract OMIM:118650
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract OMIM:268315
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Autosomal Recessive Spastic Paraplegia Type 5A
Cataract ORPHA:100986
Alpha-Mannosidosis, Adult Form
Cataract, Corneal opacity ORPHA:309288
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Cataract ORPHA:369840
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Congenital Tufting Enteropathy
Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis ORPHA:92050
Clouston Syndrome
Cataract, Conjunctivitis OMIM:129500
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
3Q29 Microduplication Syndrome
Aniridia, Cataract, Iris coloboma, Sclerocornea ORPHA:251038
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Oculocerebral Hypopigmentation Syndrome, Preus Type
Cataract, Ocular albinism, Iris hypopigmentation ORPHA:2720
Congenital Bile Acid Synthesis Defect Type 4
Cataract ORPHA:79095
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Nasopalpebral Lipoma-Coloboma Syndrome
Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity ORPHA:2399
Leiomyomatosis, Diffuse, With Alport Syndrome
Cataract, Lenticonus, Anterior lenticonus OMIM:308940
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Nance-Horan Syndrome
Microcornea, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Conjunctivitis, Corneal scarring OMIM:226600
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Tachycardia, Opisthotonus OMIM:184850
Autoimmune Hypoparathyroidism
Cataract, Conjunctivitis ORPHA:36913
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cataract ORPHA:363623
Warburg Micro Syndrome 2
Microcornea, Cataract, Developmental cataract OMIM:614225
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pterygium, Cataract OMIM:224410
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Cataract OMIM:616538
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Tetraamelia-Multiple Malformations Syndrome
Microcornea, Cataract, Iris coloboma ORPHA:3301
Lymphedema-Distichiasis Syndrome
Corneal erosion, Cataract, Conjunctivitis ORPHA:33001
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Acute Radiation Syndrome
Cataract ORPHA:454831
Transketolase Deficiency
Cataract, Conjunctivitis ORPHA:488618
Stromme Syndrome
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma OMIM:243605
Mednik Syndrome
Cataract OMIM:609313
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Keratoconjunctivitis, Band keratopathy OMIM:269200
Werner Syndrome
Cataract OMIM:277700
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response OMIM:616881
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Nuclear cataract, Cataract OMIM:608885
Xeroderma Pigmentosum, Complementation Group B
Cataract OMIM:610651
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis OMIM:158310
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Exaggerated startle response, Short attention span OMIM:617864
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system... OMIM:609049
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Blau Syndrome
Cataract, Iritis, Band keratopathy OMIM:186580
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval, Dystonia OMIM:312750
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Sympathetic Ophthalmia
Anterior chamber cells, Cataract, Corneal keratic precipitates, Posterior synechiae of the anteri... ORPHA:79098
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia, Dystonia ORPHA:480864
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral regurgitation ORPHA:309155
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract ORPHA:314404
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Tremor, Depression, Dystonia, Memory impairme... ORPHA:845
Knobloch Syndrome
Cataract, Ectopia lentis ORPHA:1571
Frontofacionasal Dysplasia
Microcornea, Cataract, Iris coloboma OMIM:229400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma ORPHA:2250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Phace Syndrome
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma ORPHA:42775
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope ORPHA:230
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration OMIM:268800
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction ORPHA:268
Scalp-Ear-Nipple Syndrome
Cataract ORPHA:2036
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Tremor, Congestive heart failur... ORPHA:466677
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Dystonia, Abnormal T-wav... ORPHA:2131
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Asparagine Synthetase Deficiency
Tremor, Irritability, Exaggerated startle response OMIM:615574
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Exaggerated startle response, Dystonia ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Pulmonic stenosis OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... ORPHA:358
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
African Trypanosomiasis
Abnormal EKG, Pericarditis, Tremor, Myocarditis, Congestive heart failure, Choreoathetosis, Secon... ORPHA:3385
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Dystonia OMIM:241080
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Dystonia ORPHA:3464
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Pulmonic stenosis, Dystonia ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:619522

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.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term dysplasia Nhsem1(IMPC)Tcp HEM Early adult
Eye - MPATH pathological process term dysplasia Nhsem1(IMPC)Tcp HOM Early adult

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 Nhs.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nhstm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nhsem3(IMPC)Tcp Intra-exon deletion Mice
Nhstm40553(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nhstm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nhsem1(IMPC)Tcp Indel Mice

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