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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
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 embryo turning Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube closure Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal testis morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal somite shape Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal skin morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
persistence of hyaloid vascular system Atp1b1em1(IMPC)Mbp HET Early adult 1.25×10-06
abnormal retina morphology Atp1b1em1(IMPC)Mbp HET   Early adult 2.57×10-05
embryonic growth retardation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
decreased locomotor activity Atp1b1em1(IMPC)Mbp HET Early adult 9.22×10-09
abnormal optic vesicle formation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
increased startle reflex Atp1b1em1(IMPC)Mbp HET Early adult 4.00×10-08
abnormal heart morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Atp1b1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal vitelline vasculature morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
prenatal lethality prior to heart atrial septation Atp1b1em1(IMPC)Mbp HOM   E15.5 0.00
abnormal neural tube morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
enlarged testis Atp1b1em1(IMPC)Mbp HET Early adult 0.00
cataract Atp1b1em1(IMPC)Mbp HET Early adult 7.78×10-05
shortened QRS complex duration Atp1b1em1(IMPC)Mbp HET Early adult 2.62×10-05
abnormal pharyngeal arch morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal vitreous body morphology Atp1b1em1(IMPC)Mbp HET Early adult 3.85×10-05

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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.

Gross Morphology Embryo E9.5

Images

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Gross Morphology Embryo E14.5-E15.5

Images

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

8 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 systolic blood pressure, Elevated mean arterial 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
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Retinopathy Of Prematurity
Vitreous hemorrhage, Cataract, Tractional retinal detachment, Abnormal retinal vascular morpholog... 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
Facial telangiectasia, Gait disturbance, Macroorchidism, Limb dystonia ORPHA:94083
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Subcapsular cataract, Tractional retinal detachme... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of t... ORPHA:91495
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,... ORPHA:891
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Vitritis, Cystoid macul... ORPHA:40923
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Macroorchidism ORPHA:3077
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Vitreous floaters, Hyphema, Epiretinal membrane, C... ORPHA:71213
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Retinal nonattachment, Remnants of the hyaloid vascular system, Ret... OMIM:221900
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Tremor, Optic disc pallor OMIM:165300
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Bradykinesia, Juvenile cataract, Resting tremor, Tremor, Shuffling gait, Dystonia, ... OMIM:300055
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach... ORPHA:179
Nathalie Syndrome
Cataract, Arrhythmia ORPHA:2663
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macroorchidism OMIM:300886
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Central Retinal Vein Occlusion
Macular edema, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage, Macular cott... ORPHA:411527
Spastic Paraparesis And Deafness
Cataract, Tremor, Hypogonadism OMIM:312910
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Oligozoospermia, Macroorchidism, Long penis ORPHA:3000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Abnormal vitreous humor morphology, Hypopyon, Posterior ... ORPHA:209959
Morm Syndrome
Cataract, Retinal atrophy, Micropenis, Retinal dystrophy ORPHA:75858
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Spastic Paraparesis-Deafness Syndrome
Cataract, Gait disturbance, Ataxia, Hypogonadism ORPHA:2815
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Verheij Syndrome
Coloboma, Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Short... OMIM:615583
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Steppage gait, Atrial flutter, Inability to walk, Tricuspid regurgitati... ORPHA:324410
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... 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
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch... ORPHA:231736
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d... ORPHA:363741
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, 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
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Loss of ambulation, ... OMIM:204200
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Chorioretinal coloboma ORPHA:2489
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy OMIM:601794
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract 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
Optic atrophy, Unsteady gait, Cataract OMIM:620312
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Hypergonadotropic hypogonadism, Intention tremor, Ataxia, Cataract, Rod-cone dystrophy, P... OMIM:614307
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
47,Xyy Syndrome
Congenital stationary night blindness, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Inc... ORPHA:8
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C... OMIM:611040
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Short stature, Abnormal mitral valve morphology, Pulmonic stenosis ORPHA:1131
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Optic disc drusen, Cystoid macular ed... OMIM:600059
Senior-Loken Syndrome
Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Ataxia, Cataract ORPHA:3156
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Chorioretin... OMIM:251270
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretinal coloboma... ORPHA:1473
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract ORPHA:1875
Xp22.13P22.2 Duplication Syndrome
Polycystic ovaries, Macroorchidism ORPHA:284180
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
3-Methylglutaconic Aciduria, Type V
Optic atrophy, Congestive heart failure, Prolonged QT interval, Hypospadias, Noncompaction cardio... OMIM:610198
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Retinoblastoma
Hypopyon, Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hetero... ORPHA:790
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Fragile X Syndrome
Macroorchidism ORPHA:908
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... ORPHA:2334
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro... ORPHA:91349
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal peau... OMIM:264800
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia OMIM:300376
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Exaggerated star... OMIM:608800
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Polyembryoma
Isosexual precocious puberty, Macroorchidism, Abnormal onset of bleeding ORPHA:180229
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrioventricular canal defect, Branchial anomaly, Coloboma, Increased nuch... ORPHA:453499
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Micropenis, Retinal dystrophy OMIM:610156
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Macular degeneration, Truncal ataxia, Intention tremo... ORPHA:284289
Isolated Follicle Stimulating Hormone Deficiency
Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D... ORPHA:52901
4H Leukodystrophy
Optic atrophy, Decreased response to growth hormone stimulation test, Dysdiadochokinesis, Tremor,... ORPHA:289494
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrial arrhythmia, Waddling gait, First degree atrioventricular block, Atrioventricular block, Lo... OMIM:310300
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Congenital Sialidosis Type 2
Optic atrophy, Yellow/white lesions of the retina, Petechiae, Corneal opacity, Developmental cata... ORPHA:93400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Microphthalmia/Coloboma 12
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... OMIM:120200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Intention tremor, Ataxia, Cataract, Rod-cone dystrophy, Dysm... OMIM:612674
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Pituitary hypothyroidism, Thyroid hypoplasia, Lethargy, Goiter, Increased circulatin... ORPHA:90674
Spastic Paraplegia-Precocious Puberty Syndrome
Precocious puberty in males, Hyperplasia of the Leydig cells ORPHA:2826
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Retinal hemorrhage, Raynaud phenomenon, Lacunar stroke, Retinal arte... OMIM:611773
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Hypertrophic cardiomyopathy, Vaginal hernia, Optic disc pallor ORPHA:3173
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Bradycardia, Resting tremor, Hypotension, Ecchymosis, Subconjunctival hemor... ORPHA:319213
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Laurence-Moon Syndrome
Hypoplasia of penis, Displacement of the urethral meatus, Ataxia, Cataract, Cryptorchidism, Iris ... ORPHA:2377
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Retinal hemorrhage, Hypertro... ORPHA:464321
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retinal pigmentation, C... ORPHA:3085
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Ecchymosis, Epistaxis, Subconjunctival hemorrhage, Bruisi... ORPHA:464329
Leptospirosis
Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hemorrhage, Hypotension, Conju... ORPHA:509
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism ORPHA:1381
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth... OMIM:212550
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Cataract, Increased left ventricular end-diastolic volume, Dilated cardi... OMIM:615184
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Isolated Atp Synthase Deficiency
Optic atrophy, Hypertrophic cardiomyopathy, Dystonia, Ataxia, Hypogonadism, Arrhythmia, Cataract,... ORPHA:254913
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... OMIM:620185
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Abnormal EKG, Progressive gait ataxia ORPHA:1177
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Ataxia, Arrhythmia, Cataract, Retinal degeneration, Rod... OMIM:266500
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Abnormal bleeding, Bradycardia, Petechiae, Capillary leak, Hypotensio... ORPHA:99826
Trisomy 20P
Cryptorchidism, Hypospadias, Gait disturbance, Macroorchidism ORPHA:261318
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Cataract, Pulmon... ORPHA:1345
Intermediate Uveitis
Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V... ORPHA:279914
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Spastic gait, Optic nerve hypoplasia, Corneal opacity, Hypertrophic cardiomyopathy... ORPHA:496790
Microphthalmia, Syndromic 5
Retinal dystrophy, Optic nerve hypoplasia, Coloboma, Microcornea, Cataract, Cryptorchidism, Micro... OMIM:610125
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr... OMIM:300578
Pierson Syndrome
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Remnants ... OMIM:609049
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Tremor, Hematochezia, Ataxia, Hypogonadism, Cataract, Pigmentary retinopathy ORPHA:79095
Holoprosencephaly
Cyclopia, Encephalocele, Hydrocephalus, Branchial anomaly, Holoprosencephaly, Chorioretinal colob... ORPHA:2162
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wolfram Syndrome 1
Optic atrophy, Tremor, Cardiomyopathy, Ataxia, Cataract, Testicular atrophy, Pigmentary retinopathy OMIM:222300
Retinoblastoma
Retinoblastoma, Retinal calcification, Leukocoria, Vitreous hemorrhage, Pinealoma, Vitritis OMIM:180200
Cardiomyopathy, Familial Hypertrophic, 8
Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c... OMIM:608751
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Mccune-Albright Syndrome
Abnormal testis morphology, Precocious puberty, Ovarian cyst, Elevated circulating growth hormone... ORPHA:562
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Optic disc pallor OMIM:613730
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Retinal arterial tortuosity, Inability to walk, Retinal detachment, Retinal hemorrhage, Tricuspid... OMIM:620371
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Ischemic stroke, Decreased response to growth hormone stimulation test, Azoospermia, Hypertension... ORPHA:280679
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Ataxia, Arrhythmia, Cataract, Rod-cone dystrophy ORPHA:772
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Short stature, Ho... ORPHA:1908
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Hereditary Bullous Dystrophy, Macular Type
External genital hypoplasia, Corneal opacity, Decreased testicular size, Heart murmur, Cataract, ... ORPHA:1867
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma OMIM:216820
Juvenile Xanthogranuloma
Hyphema, Iritis, Asymmetry of iris pigmentation ORPHA:158000
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Myotonic Dystrophy 1
Atrial flutter, Cholelithiasis, Atrial fibrillation, Hypogonadism, Cataract, First degree atriove... OMIM:160900
Friedreich Ataxia
Optic atrophy, Congestive heart failure, Limb ataxia, Hypertrophic cardiomyopathy, Gait ataxia, A... OMIM:229300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo... OMIM:165550
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Bor Syndrome
Branchial cyst ORPHA:107
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Exaggerated startle response, Inability to walk, Optic disc pallor OMIM:609541
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma ORPHA:2260
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret... OMIM:612109
Sympathetic Ophthalmia
Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Anterior chamber c... ORPHA:79098
Microphthalmia With Brain And Digit Anomalies
Retinal dystrophy, Microcornea, Sclerocornea, Chorioretinal coloboma, Cataract, Cryptorchidism, I... ORPHA:139471
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal exudate, Retinal hemorrhage, Vasculitis in the skin, Punctat... 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
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Branchial anomaly, Coloboma, Increased nuchal translucency, Growth delay, Abnormal heart morpholo... ORPHA:352665
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Short stature, Growth delay, Intrauterine growth retardation, Atrial septal d... ORPHA:261330
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Exaggerated startle response, Optic disc pallor ORPHA:320406
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc... ORPHA:263479
Muscular Dystrophy, Duchenne Type
Tip-toe gait, Congestive heart failure, Cardiomyopathy, Waddling gait, Loss of ambulation, Arrhyt... OMIM:310200
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Astigmatism, Attenuation of retinal blood vessels, Catar... OMIM:615986
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press... OMIM:255160
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Macular degeneration... OMIM:177850
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Walker-Warburg Syndrome
Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplasia of penis, Mic... ORPHA:899
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Aniridia-Absent Patella Syndrome
Cataract, Cryptorchidism, Aniridia ORPHA:1069
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Webbed neck, Hydrocephalus, Low posterior hairline, Optic disc coloboma... ORPHA:261337
Anterior Segment Dysgenesis 2
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... OMIM:610256
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a... ORPHA:1359
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Bone spicule pigmentation of the retina, Gait disturbance, Gait ataxia, Ataxi... ORPHA:88628
Gyrate Atrophy Of Choroid And Retina
Chorioretinal hyperpigmentation, Chorioretinal degeneration, Chorioretinal atrophy, Subcapsular c... ORPHA:414
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Proteus Syndrome
Retinal hamartoma, Buphthalmos, Ovarian neoplasm, Thymus hyperplasia, Long penis, Testicular neop... ORPHA:744
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Aromatase Deficiency
Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female... ORPHA:91
Atrial Septal Defect, Ostium Primum Type
Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla... ORPHA:99106
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Astigmatism, Gait imbalance, Retinal dystrophy, Hyperaut... OMIM:209900
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Glutaryl-Coa Dehydrogenase Deficiency
Tremor, Athetosis, Limb dystonia, Retinal hemorrhage, Dystonia, Ataxia, Subdural hemorrhage ORPHA:25
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis in the skin, Vasculitis, Hematochezia, Subconjunctival hemorrhage OMIM:617718
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Cryptorchidism, Tremor, Exaggerated startle response OMIM:620327
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Tip-toe gait, Precocious puberty, Dystonia, Ataxia, Macroorchidism OMIM:619950
Fetal Cytomegalovirus Syndrome
Optic atrophy, Petechiae, Chorioretinitis, Retinal hemorrhage ORPHA:294
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Cataract, Macular edema, Pigmentary retinopathy OMIM:268100
Idiopathic Aplastic Anemia
Ecchymosis, Gingival bleeding, Epistaxis, Retinal hemorrhage ORPHA:88
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Congestive heart failure, Retinal detachment, Retinal vascular... ORPHA:464
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo... OMIM:612422
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Hypertension, Restri... ORPHA:758
Cockayne Syndrome
Retinal atrophy, Hypertension, Action tremor, Ataxia, Optic atrophy, Difficulty walking, Band ker... ORPHA:191
Amyloidosis, Finnish Type
Orthostatic hypotension, Decreased heart rate variability, Cardiomyopathy, Optic neuropathy, Latt... OMIM:105120
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal dysplasia, Retinal detachment, Exaggerated startle response, Pulmonic sten... OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s... OMIM:614643
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Hypotension, Limb dystonia, Exaggerated... OMIM:608643
Warburg Micro Syndrome 2
Optic atrophy, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryptorchidism, Micr... OMIM:614225
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Bifid scrotum, Hyphema, Pulmonic stenosis, Aortic valve stenosis, Ectopia pupillae,... ORPHA:261552
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Prolonged QT interval, Dystonia, Ataxia, Arrhythmia, Abnormal EKG ORPHA:480864
Cockayne Syndrome Type 3
Difficulty walking, Keratoconjunctivitis sicca, Increased blood pressure, Retinal dystrophy, Corn... ORPHA:90324
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Ataxia, Exaggerated startle response OMIM:616881
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Short stature, Natal tooth, Optic disc coloboma, Right ventricular hypertro... OMIM:620186
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Spina bifida occulta, Truncus arteriosus, Branchial cyst, Dysplast... ORPHA:508488
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Rett Syndrome
Prolonged QTc interval, Truncal ataxia, Gait apraxia, Gait ataxia, Dystonia, Abnormal T-wave OMIM:312750
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Waldenström Macroglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Purpura, Vasculitis, Gingival bleeding, Re... ORPHA:33226
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Tubulointerstitial Nephritis And Uveitis Syndrome
Choroidal neovascularization, Iris nevus, Cystoid macular edema, Chorioretinal scar, Anterior cha... ORPHA:91500
Treacher-Collins Syndrome
Branchial fistula, Patent ductus arteriosus, Encephalocele, Iris coloboma ORPHA:861
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Isolated Posterior Meningocele
Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Limi... ORPHA:268810
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Usher Syndrome
Astigmatism, Abnormal cardiovascular system physiology, Hypertrophic cardiomyopathy, Abnormality ... ORPHA:886
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Gait disturbance, Ataxia, Limb dysmetria, Dysmetria ORPHA:94125
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Junctional ectopic tachycardia, Ovot... OMIM:309801
Refractory Anemia With Excess Blasts
Palpitations, Abnormal bleeding, Retinal hemorrhage ORPHA:86839
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Norrie Disease
Optic atrophy, Abnormal chorioretinal morphology, Abnormal vitreous humor morphology, Aplasia/Hyp... ORPHA:649
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Tay-Sachs Disease
Optic atrophy, Inability to walk, Tremor, Exaggerated startle response, Gait disturbance, Precoci... ORPHA:845
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Coloboma, Retinal a... OMIM:236670
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ischemic stroke, Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity... OMIM:175780
Trichinellosis
Abnormal optic nerve morphology, Retinal hemorrhage, Anisocoria, Conjunctival hyperemia, Central ... ORPHA:863
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Stiff-Person Syndrome
Tachycardia, Hypertension, Opisthotonus, Exaggerated startle response OMIM:184850
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Hypertrophic cardiomyopathy, Jaw... ORPHA:85443
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Optic nerve hypoplasia, Inability to walk, Exaggerated startle response OMIM:617864
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Optic disc ... OMIM:268315
Hyperekplexia 3
Syncope, Exaggerated startle response OMIM:614618
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Pulmonary embolism, Gastrointestinal hemorrhage, Retinal detachment, Hypertension,... ORPHA:394
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anter... ORPHA:67036
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Tachycardia OMIM:614653
Aspartylglucosaminuria
Cataract, Mitral regurgitation, Macroorchidism OMIM:208400
Sandhoff Disease, Infantile Form
Mitral regurgitation, Cherry red spot of the macula, Exaggerated startle response ORPHA:309155
Rift Valley Fever
Hematemesis, Abnormal bleeding, Melena, Gingival bleeding, Retinal hemorrhage, Retinal vasculitis... ORPHA:319251
Full Nf2-Related Schwannomatosis
Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t... ORPHA:637
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decre... OMIM:241080
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv... ORPHA:3093
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula... ORPHA:860
Gm2 Gangliosidosis, Ab Variant
Dystonia, Cherry red spot of the macula, Exaggerated startle response ORPHA:309246
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Retinal hemorrhage, Keratitis, Conjunctivitis, Diffuse alveolar h... 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, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ... ORPHA:268
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Keratitis, Ataxia, Conjunctivitis, Cataract, Choreoathetosis, Keratoc... OMIM:278730
Branchiooculofacial Syndrome
Postnatal growth retardation, Branchial anomaly, Low posterior hairline, Retinal coloboma, Intrau... OMIM:113620
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Exaggerated startle response, Gait ataxia, Ataxia OMIM:620451
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Sandhoff Disease
Orthostatic hypotension, Ataxia, Cherry red spot of the macula, Exaggerated startle response OMIM:268800
Woodhouse-Sakati Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat... ORPHA:3464
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave ORPHA:231625
Dextrocardia
T-wave inversion, Pancreatic hypoplasia, Abnormal reproductive system morphology, 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
Ataxia, Exaggerated startle response OMIM:618598
Scorpion Envenomation
Myocarditis, Mydriasis, Congestive heart failure, Purpura, Prominent U wave, Hypertension, Tremor... ORPHA:466677
Microphthalmia, Syndromic 2
Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Pulmonic s... OMIM:300166
African Trypanosomiasis
Myocarditis, Congestive heart failure, Iritis, Akinesia, Difficulty walking, Optic neuritis, Trem... ORPHA:3385
Alternating Hemiplegia Of Childhood
Mydriasis, Tremor, Cardiomyopathy, Cardiac conduction abnormality, Dystonia, Ataxia, Arrhythmia, ... ORPHA:2131
Cocaine Intoxication
Mydriasis, Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tre... ORPHA:90068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
Witteveen-Kolk Syndrome
Short stature, Growth delay, Intrauterine growth retardation, Branchial fistula, 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
Noonan Syndrome
Abnormal bleeding, Hypertrophic cardiomyopathy, Cryptorchidism, Arrhythmia, Bruising susceptibili... ORPHA:648
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Cerebellar-Facial-Dental Syndrome
Cataract, Cryptorchidism, Abnormal T-wave ORPHA:444072
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Branchial anomaly, Tetralogy of Fallot, Patent ductus art... OMIM:164210
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Exaggerated startle response ORPHA:521426
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Dopamine Beta-Hydroxylase Deficiency
Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope ORPHA:230
Acromelic Frontonasal Dysostosis
Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system OMIM:603671
Neuroocular Syndrome
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Len... OMIM:619539
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Cherry red spot of the macula, Exaggerated startle response ORPHA:79255
Asparagine Synthetase Deficiency
Optic nerve hypoplasia, Tremor, Exaggerated startle response 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
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension... ORPHA:466650
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Semilobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Neural tube defect, Hydrocephalus, Short stature, Growth delay, Abnormal heart morphology ORPHA:93924
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Gitelman Syndrome
Neoplasm of the pancreas, Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ... ORPHA:358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Pulmonic stenosis, Precocious ... ORPHA:438213
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Lethargy, Exaggerated startle response OMIM:620423
Holoprosencephaly 2
Cyclopia, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Chorioretinal col... OMIM:157170
Interatrial Communication
Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle... ORPHA:1478
Schinzel-Giedion Syndrome
Neural tube defect, Delayed eruption of teeth, Abnormal heart morphology, Umbilical hernia, Short... ORPHA:798
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Angioid streaks of the fundus, Choroidal neovascularizatio... ORPHA:51608
Friedreich Ataxia 2
Congestive heart failure, Ataxia, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Imperforate hymen, Hematocolpos, Exaggerated startle response, Chordee, Cryptorchidi... OMIM:619522
Hypertension, Essential
Elevated systolic blood pressure, Elevated mean arterial 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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