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Gene: Atp1b1 MGI:88108

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Gene Summary

Name:
ATPase, Na+/K+ transporting, beta 1 polypeptide
Synonyms:
Atpb,  Atpb-1,  sodium/potassium ATPase beta subunit

Order Alleles

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
shortened QRS complex duration Atp1b1em1(IMPC)Mbp HET Early adult 2.62×10-05
prenatal lethality prior to heart atrial septation Atp1b1em1(IMPC)Mbp HOM   E15.5 0.00
increased startle reflex Atp1b1em1(IMPC)Mbp HET Early adult 4.00×10-08
abnormal skin morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
persistence of hyaloid vascular system Atp1b1em1(IMPC)Mbp HET Early adult 1.25×10-06
abnormal testis morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
cataract Atp1b1em1(IMPC)Mbp HET Early adult 7.78×10-05
abnormal embryo turning Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
eye hemorrhage Atp1b1em1(IMPC)Mbp HET Early adult 9.20×10-06
abnormal visceral yolk sac morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
decreased locomotor activity Atp1b1em1(IMPC)Mbp HET Early adult 9.58×10-09
abnormal pharyngeal arch morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
embryonic growth retardation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitreous body morphology Atp1b1em1(IMPC)Mbp HET Early adult 3.85×10-05
enlarged testis Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal optic vesicle formation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal somite shape Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitelline vasculature morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Atp1b1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal retina morphology Atp1b1em1(IMPC)Mbp HET   Early adult 2.57×10-05

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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 Whole Body Dorso Ventral

39 Images

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Gross Morphology Embryo E9.5

Images

14 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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Human diseases caused by Atp1b1 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 Atp1b1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500

The table below shows human diseases predicted to be associated to Atp1b1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Retinopathy Of Prematurity
Cataract, Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachme... ORPHA:90050
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Partington Syndrome
Macroorchidism, Gait disturbance, Limb dystonia, Facial telangiectasia ORPHA:94083
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Hemorrhage of... ORPHA:91495
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Tractional retinal detachment, Epir... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... ORPHA:3002
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Congestive heart failure, Tremor, Macroorchidism ORPHA:3077
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Hyphema, Epiretinal membrane, ... ORPHA:71213
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... ORPHA:75376
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Shuffling gait, Resting tremor, Tremor, Juvenile cataract, Dystonia, Macroorch... OMIM:300055
Vitreoretinochoroidopathy
Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretina... OMIM:193220
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Tremor OMIM:312910
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Hypopyon, Macular edema, Posterior synechiae of the anterior cha... ORPHA:209959
Morm Syndrome
Micropenis, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Gait disturbance, Ataxia ORPHA:2815
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia OMIM:617133
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect, S... OMIM:615583
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Inability to walk, Tricuspid reg... ORPHA:324410
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism, Rod-cone d... ORPHA:363741
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Concentric hypertrophic cardiomyopathy, Retinal de... OMIM:204200
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Lattice retinal degeneration, Retinal detachment, Peripheral vitreor... OMIM:614292
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Retinal coloboma, Hypogonadism, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Unsteady gait, Optic atrophy OMIM:620312
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Tremor, Rod-cone dystrophy, Ataxia, Intention tremor, Hypergona... OMIM:614307
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Bone spicule pigmentation of th... OMIM:611040
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... OMIM:309300
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:616108
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Fundus atrop... OMIM:204100
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Peripheral retinal degeneration, Central retinal exudate OMIM:264420
Retinitis Pigmentosa 13
Attenuation of retinal blood vessels, Asteroid hyalosis, Retinal degeneration, Subcapsular catara... OMIM:600059
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Ataxia, Hypertension, Retinal dystrophy ORPHA:3156
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cataract, Abnormality of retinal pigmentation, Retinal detachment, Chorioretinal dy... OMIM:251270
Leber Congenital Amaurosis 8
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapilla... OMIM:613835
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Nuclear cataract, Retinal exudate, Posterior vitreous deta... OMIM:616468
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Tachycardia, Purpura, Epididymitis, Diffuse alveolar hemorrhage, Bundle branch... ORPHA:99827
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Posterior embryotoxon, Retinal detachment, Corne... ORPHA:1473
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cataract, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance ORPHA:1875
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Crypt... OMIM:610198
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Retinoblastoma
Hypopyon, Pineoblastoma, Hyphema, Subretinal pigment epithelium hemorrhage, Abnormality of retina... ORPHA:790
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Fragile X Syndrome
Macroorchidism ORPHA:908
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypotension, Hypopituitarism, Decreased r... ORPHA:91349
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Macular degeneration, Choroidal neovascu... OMIM:264800
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Polyembryoma
Isosexual precocious puberty, Abnormal onset of bleeding, Macroorchidism ORPHA:180229
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Familial Acute Necrotizing Encephalopathy
Gait disturbance, Choroid hemorrhage ORPHA:88619
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract, Retinal dystrophy OMIM:610156
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro... ORPHA:52901
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels, Limb ataxia, Dysmetria, Progr... ORPHA:284289
4H Leukodystrophy
Cataract, Optic atrophy, Decreased response to growth hormone stimulation test, Dysmetria, Tremor... ORPHA:289494
Stickler Syndrome, Type V
Cataract, Retinal detachment, Vitreoretinopathy OMIM:614284
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Loss of ambulation, Atrial arrhythmia, First... OMIM:310300
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Congenital Sialidosis Type 2
Ataxia, Cataract, Optic atrophy, Abnormal EKG, Cherry red spot of the macula, Petechiae, Dysmetri... ORPHA:93400
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Macroorchidism, Hypospadias OMIM:618874
Microphthalmia/Coloboma 12
Peters anomaly, Chorioretinal coloboma, Optic disc coloboma, Optic nerve aplasia, Remnants of the... OMIM:120200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Fundus atrophy, Chorioretinal degenerat... OMIM:312600
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Attenuation of retinal blood vessels, Optic disc d... OMIM:204000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Optic atrophy, Dysmetria, Subcapsular cataract, Rod-cone dystrophy, Ataxia, Intention t... OMIM:612674
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Retinal Arteries, Tortuosity Of
Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Isolated Thyroid-Stimulating Hormone Deficiency
Increased circulating prolactin concentration, Goiter, Lethargy, Bradycardia, Pituitary hypothyro... ORPHA:90674
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal arteriolar tortuosity, Retinal hemorrhage, Raynaud phenomenon, Supraventricular arrhythmi... OMIM:611773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor, Vaginal hernia ORPHA:3173
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Shock, Excessive bleeding after a venipuncture, Ecchymosis, Bradycar... ORPHA:319213
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Laurence-Moon Syndrome
Cataract, Cryptorchidism, Displacement of the urethral meatus, Ataxia, Hypoplasia of penis, Iris ... ORPHA:2377
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Decreased testicular size, Cryptorchidism, Abnormality of retinal pigmentation, Polycys... ORPHA:3085
Kaposiform Lymphangiomatosis
Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Ecchymosis, Subconjuncti... ORPHA:464329
Leptospirosis
Hypotension, Pulmonary hemorrhage, Macular cotton wool spot, Chorioretinitis, Conjunctival hypere... ORPHA:509
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Cardiomyopathy, Dilated, 1Ii
Cataract, Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left v... OMIM:615184
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy, Buphthal... OMIM:212550
Aniridia 2
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Isolated Atp Synthase Deficiency
Cataract, Optic atrophy, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Letha... ORPHA:254913
Morning Glory Disc Anomaly
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Atelis Syndrome 2
Dysmetria, Vitreous hemorrhage, Developmental cataract, Remnants of the hyaloid vascular system, ... OMIM:620185
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive gait ataxia, Abnormal EKG, Progressive cerebellar ataxia ORPHA:1177
Refsum Disease, Classic
Cataract, Cardiomyopathy, Congestive heart failure, Retinal degeneration, Arrhythmia, Rod-cone dy... OMIM:266500
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Exces... ORPHA:99826
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Trisomy 20P
Macroorchidism, Gait disturbance, Hypospadias, Cryptorchidism ORPHA:261318
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Retinal vein occl... OMIM:177650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Cataract, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, ... ORPHA:1345
Intermediate Uveitis
Cataract, Vasculitis, Band keratopathy, Posterior synechiae of the anterior chamber, Macular edem... ORPHA:279914
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, Gait ataxia, Cryptorchidism, Corneal opacit... ORPHA:496790
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Coloboma, Micropenis, Retinal... OMIM:610125
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Attenuation of r... OMIM:300578
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri... OMIM:609049
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Cholelithiasis, Hematochezia, Pigmentary retinopathy, Hypogonadism, Tremor, Ataxia ORPHA:79095
Holoprosencephaly
Spinal dysraphism, Chorioretinal coloboma, Tetralogy of Fallot, Branchial anomaly, Encephalocele,... ORPHA:2162
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... ORPHA:340
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wolfram Syndrome 1
Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Tremor, Ataxia, Testicular atrophy OMIM:222300
Retinoblastoma
Pinealoma, Retinoblastoma, Leukocoria, Vitreous hemorrhage, Retinal calcification, Vitritis OMIM:180200
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Mccune-Albright Syndrome
Precocious puberty, Increased circulating prolactin concentration, Goiter, Ovarian cyst, Hyperpla... ORPHA:562
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor, Cryptorchidism OMIM:613730
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p... ORPHA:90790
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Inability to walk, Tricuspid regurgitation, Retinal arterial tortuosity, Cryptorchidism, Dystonia... OMIM:620371
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decrease... ORPHA:280679
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Infantile Refsum Disease
Cataract, Optic atrophy, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy, Ataxia ORPHA:772
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Hereditary Bullous Dystrophy, Macular Type
Cataract, Decreased testicular size, External genital hypoplasia, Cryptorchidism, Corneal opacity... ORPHA:1867
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Juvenile Xanthogranuloma
Asymmetry of iris pigmentation, Hyphema, Iritis ORPHA:158000
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Myotonic Dystrophy 1
Cataract, Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Test... OMIM:160900
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Friedreich Ataxia
Optic atrophy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Limb ataxia, ... OMIM:229300
Bor Syndrome
Branchial cyst ORPHA:107
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... OMIM:612109
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Sympathetic Ophthalmia
Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the anterior chamber, Cor... ORPHA:79098
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Cryptorchidism, Sclerocornea, Iris coloboma, Retin... ORPHA:139471
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal exudate, Gastrointestinal hemorrhage, Macular edema, Punctate vasculitis skin lesions, Te... OMIM:192315
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Truncus arteriosus, Ventricular septal defect... ORPHA:261330
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Hypogonadism-Cataract Syndrome
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Epiretinal membrane, Retinal perforat... ORPHA:263479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Los... OMIM:310200
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Retinal vascular tortuosity, Hypoplasia... OMIM:106210
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Bardet-Biedl Syndrome 9
Cataract, Attenuation of retinal blood vessels, Astigmatism, Retinal degeneration, Bone spicule p... OMIM:615986
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Macular degeneration, Angioid streaks of the fundus, Angina pectoris... OMIM:177850
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Walker-Warburg Syndrome
Cataract, Microcornea, Retinal dysplasia, Optic atrophy, Abnormal optic nerve morphology, Cryptor... ORPHA:899
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Optic disc coloboma, Ventricular septal defect, Low posterior hai... ORPHA:261337
Carney Complex
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Ovari... ORPHA:1359
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... OMIM:610256
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Cataract, Pigmentary retinopathy, Gait ataxia, Gait disturbance, Bone spicule... ORPHA:88628
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Gyrate Atrophy Of Choroid And Retina
Cataract, Abnormal macular morphology, Chorioretinal atrophy, Subcapsular cataract, Chorioretinal... ORPHA:414
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Thymus hyperplasia, Pulmonary embolism, Central hete... ORPHA:744
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Aromatase Deficiency
Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Enlarged polycystic ov... ORPHA:91
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Bardet-Biedl Syndrome 1
Ataxia, Cataract, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Gait imbalan... OMIM:209900
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Limb dystonia, Tremor, Ataxia, Retinal hemorrhage, Dystonia, Athetosis ORPHA:25
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Tip-toe gait, Macroorchidism, Ataxia, Dystonia OMIM:619950
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cryptorchidism, Tremor, Exaggerated startle response OMIM:620327
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Optic atrophy, Chorioretinitis, Petechiae ORPHA:294
Enhanced S-Cone Syndrome
Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis OMIM:268100
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Retinal hemorrhage, Ecchymosis ORPHA:88
Incontinentia Pigmenti
Cataract, Keratitis, Supernumerary nipple, Congestive heart failure, Cerebral ischemia, Retinal v... ORPHA:464
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Retinopathy, An... ORPHA:758
Cockayne Syndrome
Lentiglobus, Difficulty walking, Cryptorchidism, Action tremor, Ataxia, Optic disc pallor, Cornea... ORPHA:191
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Decreased heart rate variability, Orthostatic hypotension, Optic neurop... OMIM:105120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Optic atrophy, Dilated cardiomyopathy, Retinal detachment, Exaggerated startle response... OMIM:253800
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Hypotension, Oculogyric crisis, Limb dystonia, Lethargy, Limb tremor, Torticollis,... OMIM:608643
Warburg Micro Syndrome 2
Small scrotum, Cataract, Microcornea, Optic atrophy, Cryptorchidism, Hypoplastic labia majora, De... OMIM:614225
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Broad-based gait, Hyphema, Ectopia pupillae, Cryptorchidism, Axenfeld anom... ORPHA:261552
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
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Subdural hemorrhage, Cardiomyopathy, Difficulty walking, Inte... ORPHA:90324
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Abnormal EKG, Arrhythmia, Ataxia, Prolonged QT interval, Dystonia ORPHA:480864
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Exaggerated startle response, Ataxia OMIM:616881
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Optic disc coloboma, Intrauterine growth retardation, Patent foramen... OMIM:620186
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Retinal coloboma, Abnormal heart morphol... ORPHA:508488
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage, Subdural hemorrhage OMIM:615368
Incontinentia Pigmenti
Cataract, Optic atrophy, Keratitis, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Hypo... OMIM:308300
Waldenström Macroglobulinemia
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... ORPHA:33226
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Truncal ataxia, Dystonia, Prolonged QTc interval OMIM:312750
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechiae of the anterior c... ORPHA:91500
Treacher-Collins Syndrome
Iris coloboma, Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Isolated Posterior Meningocele
Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... ORPHA:268810
Usher Syndrome
Cataract, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Astigmatism, Ab... ORPHA:886
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Pi... OMIM:309801
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation ORPHA:94125
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Palpitations, Abnormal bleeding ORPHA:86839
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Norrie Disease
Cataract, Optic atrophy, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ... ORPHA:649
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Tay-Sachs Disease
Precocious puberty, Optic atrophy, Laryngeal dystonia, Inability to walk, Cherry red spot of the ... ORPHA:845
Stiff Person Spectrum Disorder
Difficulty walking, Falls, Exaggerated startle response ORPHA:3198
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... ORPHA:90065
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Lef... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Peters anomaly, Megalocornea, Cryptorchidism, Retinal atrophy, Coloboma,... OMIM:236670
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypopigmentation of the fundus, Hypoplasia of the iris, Ectopia pupillae, Cerebral h... OMIM:175780
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Lethar... ORPHA:863
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Stiff-Person Syndrome
Tachycardia, Opisthotonus, Hypertension, Exaggerated startle response OMIM:184850
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Bruising suscept... ORPHA:85443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc ... OMIM:268315
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Cataract, Gastrointestinal hemorrhage, Optic atrophy, Ectopia lentis, Pulmonary embolism, Subcuta... ORPHA:394
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Autosomal Dominant Optic Atrophy And Cataract
Cataract, Posterior subcapsular cataract, Optic atrophy, Resting tremor, Cerulean cataract, Anter... ORPHA:67036
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Aspartylglucosaminuria
Cataract, Macroorchidism, Mitral regurgitation OMIM:208400
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Rift Valley Fever
Gingival bleeding, Macular edema, Abnormal bleeding, Retinal vasculitis, Retinitis, Hematemesis, ... ORPHA:319251
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Abnormal optic nerve morphology, Epiretinal membrane, Cortical ca... ORPHA:637
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Dystonia, Hypogonadotropic hypogonadism, Micropenis, ... OMIM:241080
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Retinal hemorrhage, Conju... OMIM:608710
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Exaggerated startle response OMIM:618056
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Atax... OMIM:278730
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Right ... ORPHA:268
Branchiooculofacial Syndrome
Retinal coloboma, Postnatal growth retardation, Intrauterine growth retardation, Branchial anomal... OMIM:113620
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Optic atrophy, Difficulty walking, Gait ataxia, Exaggerated startle response OMIM:620451
Sandhoff Disease
Cherry red spot of the macula, Orthostatic hypotension, Exaggerated startle response, Ataxia OMIM:268800
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased response to growth hormone stimulation test, Decreased testicular size... ORPHA:3464
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Dextrocardia
Abnormal reproductive system morphology, T-wave inversion, Pancreatic hypoplasia, Abnormal EKG ORPHA:1666
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Scorpion Envenomation
Mydriasis, Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Ca... ORPHA:466677
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hypospadias, Microcornea, Septate vagina, Cryptorchidism, Retinal detachme... OMIM:300166
African Trypanosomiasis
Keratitis, Third degree atrioventricular block, Second degree atrioventricular block, Congestive ... ORPHA:3385
Alternating Hemiplegia Of Childhood
Mydriasis, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Tremor, Arrhythmia, A... ORPHA:2131
Cocaine Intoxication
Mydriasis, Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Trem... ORPHA:90068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Broad-based gait, Exaggerated startle response, Ataxia ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Witteveen-Kolk Syndrome
Branchial fistula, Growth delay, Intrauterine growth retardation, Short stature, Iris coloboma OMIM:613406
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Exaggerated startle response OMIM:617281
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Noonan Syndrome
Abnormal bleeding, Bruising susceptibility, Abnormal EKG, Hypertrophic cardiomyopathy, Cryptorchi... ORPHA:648
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Cerebellar-Facial-Dental Syndrome
Cataract, Cryptorchidism, Abnormal T-wave ORPHA:444072
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Syncope, Orthostatic hypotension, Abnormal EKG ORPHA:230
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Acromelic Frontonasal Dysostosis
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Cardiomyopathy, Exaggerated startle response ORPHA:79255
Neuroocular Syndrome 1
Cataract, Microcornea, Peters anomaly, Hypoplasia of the fovea, Blue irides, Remnants of the hyal... OMIM:619539
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Abnormal bleeding, Sinus tachycardia, Abnormal T-wave, ST s... ORPHA:466650
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Neural tube defect ORPHA:93924
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Palpitations, ST segment depression, Syncope, Raynaud phenomen... ORPHA:358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Broad-based gait, Increased circulating prolactin concentration, Inability to... ORPHA:438213
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Lethargy, Exaggerated startle response OMIM:620423
Holoprosencephaly 2
Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Cyc... OMIM:157170
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Umbilical hernia, Abnormal heart morphology, Short neck, Neural tube d... ORPHA:798
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Transient ischemic attack, Left ventricular systolic dysfunction, A... ORPHA:51608
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG, Ataxia OMIM:601992
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Exaggerated startle response, Hydrocele... OMIM:619522
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367

Histopathology

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

There is no histopathology data for Atp1b1

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 Atp1b1.

No publications found that use IMPC mice or data for Atp1b1.

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
Atp1b1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atp1b1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Atp1b1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp1b1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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