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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 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
abnormal neural tube closure Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal embryo turning Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
eye hemorrhage Atp1b1em1(IMPC)Mbp HET Early adult 1.12×10-05
embryonic growth retardation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal retina blood vessel morphology Atp1b1em1(IMPC)Mbp HET   Early adult 8.19×10-05
abnormal retina morphology Atp1b1em1(IMPC)Mbp HET   Early adult 4.54×10-05
abnormal neural tube morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
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 vitelline vasculature morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
preweaning lethality, complete penetrance Atp1b1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal testis morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal somite shape Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
decreased locomotor activity Atp1b1em1(IMPC)Mbp HET Early adult 1.01×10-08
abnormal optic vesicle formation Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00
persistence of hyaloid vascular system Atp1b1em1(IMPC)Mbp HET Early adult 2.79×10-06
abnormal skin morphology Atp1b1em1(IMPC)Mbp HET Early adult 0.00
shortened QRS complex duration Atp1b1em1(IMPC)Mbp HET Early adult 4.14×10-05
enlarged testis Atp1b1em1(IMPC)Mbp HET Early adult 0.00
abnormal visceral yolk sac morphology Atp1b1em1(IMPC)Mbp HOM E9.5 0.00

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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

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14 Images

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Gross Morphology Embryo E14.5-E15.5

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5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 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
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Partington Syndrome
Macroorchidism, Gait disturbance, Facial telangiectasia, Limb dystonia ORPHA:94083
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Retinal Capillary Malformation
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... ORPHA:71213
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po... OMIM:193235
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... ORPHA:40923
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Tremor, Congestive heart failure, Shuffling gait, Macroorchidism ORPHA:3077
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Ataxia, Tremor, Choreoathetosis, Bradykinesia, Shuffling gait, Dystonia, Macroorc... OMIM:300055
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Coloboma, Int... OMIM:615583
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Inability to walk, Mitral regu... ORPHA:324410
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... ORPHA:8
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism OMIM:300624
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism OMIM:300143
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Optic atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy ORPHA:1177
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Microphthalmia, Isolated 4
Coloboma, Absent testis OMIM:613094
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Uveal Melanoma
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology ORPHA:39044
Fragile X Syndrome
Macroorchidism ORPHA:908
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Hypospadias, Sudden cardiac death, C... OMIM:610198
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Epididy... ORPHA:99827
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma OMIM:221900
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Polyembryoma
Macroorchidism, Abnormal onset of bleeding, Irregular menstruation, Isosexual precocious puberty ORPHA:180229
Nathalie Syndrome
Abnormal EKG OMIM:255990
Lujan-Fryns Syndrome
Macroorchidism ORPHA:776
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Retinal Arteries, Tortuosity Of
Retinal arteriolar tortuosity, Retinal hemorrhage OMIM:180000
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... OMIM:264800
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag... OMIM:611773
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage, Gait disturbance ORPHA:88619
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioven... OMIM:310300
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Elevated circulating growth hormone concentration ORPHA:85327
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Subconjunctiva... ORPHA:464329
Lujo Hemorrhagic Fever
Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemo... ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Isolated Thyroid-Stimulating Hormone Deficiency
Pituitary hypothyroidism, Bradycardia, Macroorchidism, Lethargy, Thyroid hypoplasia, Increased ci... ORPHA:90674
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Iris coloboma OMIM:618874
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblas... ORPHA:790
Cln3 Disease
Ataxia, Bull's eye maculopathy, Optic atrophy, Bradykinesia, Pigmentary retinopathy, T-wave inver... ORPHA:228346
Phacoanaphylactic Uveitis
Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore... ORPHA:209959
Leptospirosis
Papilledema, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctiv... ORPHA:509
Trisomy 20P
Macroorchidism, Cryptorchidism, Gait disturbance, Hypospadias ORPHA:261318
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Orc... ORPHA:99826
Joubert Syndrome 15
Coloboma, Exencephaly OMIM:614464
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... ORPHA:562
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Optic atrophy, Limb ataxia, Gait ataxia, Hypertro... OMIM:229300
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... ORPHA:90790
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism OMIM:309520
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma ORPHA:2260
Bor Syndrome
Branchial cyst ORPHA:107
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Abnormal EKG, Ataxia, Optic atrophy, Dysmetria, Telangiectasia, Yellow/w... ORPHA:93400
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dysmetria, Supravalvar pulmonary stenosis, Vitreous hemo... OMIM:620185
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Difficulty walking ORPHA:320406
Retinoblastoma
Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma OMIM:180200
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... OMIM:177850
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Ti... OMIM:310200
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ... ORPHA:261330
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Carney Complex
Leydig cell neoplasia, Ovarian serous cystadenoma, Abnormal sperm motility, Precocious puberty, O... ORPHA:1359
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Limb dystonia ORPHA:25
Idiopathic Aplastic Anemia
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding ORPHA:88
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin OMIM:617718
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Hydr... ORPHA:261337
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... ORPHA:263297
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... ORPHA:758
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Ataxia, Precocious puberty, Tip-toe gait, Dystonia, Macroorchidism OMIM:619950
Lethal Congenital Contracture Syndrome 5
Subdural hemorrhage, Retinal hemorrhage OMIM:615368
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism... ORPHA:744
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Central Precocious Puberty In Male
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males ORPHA:649929
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Abnormal retinal vascular morphology, Congestive ... ORPHA:33226
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Optic atrophy, Ataxia OMIM:616881
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Ataxia, Optic atrophy, Dystonia, Arrhythmia ORPHA:480864
49,Xxxyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:261534
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Retinal cotton wool spot, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Rett Syndrome
Dystonia, Gait apraxia, Gait ataxia, Truncal ataxia, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Recessive Mitochondrial Ataxia Syndrome
Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Limb dysmetria ORPHA:94125
Refractory Anemia With Excess Blasts
Abnormal bleeding, Palpitations, Retinal hemorrhage ORPHA:86839
Juvenile Xanthogranuloma
Hyphema ORPHA:158000
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... ORPHA:508488
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Optic disc coloboma, Atrial septal defect, Intrauteri... OMIM:620186
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus, Iris coloboma ORPHA:861
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impotence, Cherry red spot of the ... OMIM:268800
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Sandhoff Disease, Infantile Form
Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response ORPHA:309155
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ja... ORPHA:85443
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po... OMIM:609049
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:309246
Stiff-Person Syndrome
Hypertension, Tachycardia, Exaggerated startle response, Opisthotonus OMIM:184850
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Tay-Sachs Disease
Exaggerated startle response, Tremor, Inability to walk, Precocious puberty, Optic atrophy, Dysme... ORPHA:845
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Retinal ... OMIM:253800
Hyperekplexia 3
Exaggerated startle response, Syncope OMIM:614618
Incontinentia Pigmenti
Retinal detachment, Telangiectasia of the skin, Abnormal chorioretinal morphology, Supernumerary ... ORPHA:464
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Broad-based gait, Hypospadias, Septate vagina, Inability to walk, Cryptorchidism, ... ORPHA:261552
Rift Valley Fever
Abnormal bleeding, Retinitis, Hematemesis, Retinal hemorrhage, Macular edema, Melena, Retinal vas... ORPHA:319251
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, H... OMIM:241080
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response, Optic nerve hypoplasia OMIM:617864
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response OMIM:620327
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... ORPHA:79098
Cockayne Syndrome
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Ataxi... ORPHA:191
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Supernumerary nipple, Retinal vascular proliferation... OMIM:308300
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Inability to walk, Right bundle branch block, Tip-toe gait, Reduced left ventricula... ORPHA:268
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Subdural hemorrhage, Retina... ORPHA:90324
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia OMIM:618056
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone stimulation t... ORPHA:3464
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... ORPHA:91500
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Retinal colo... OMIM:113620
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Trichinellosis
Lethargy, Abnormal optic nerve morphology, Retinal hemorrhage, Central retinal artery occlusion ORPHA:863
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Retrograde ejaculation, Syncope, Orthostatic syncope ORPHA:230
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Dextrocardia
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormal reproductive system morphology ORPHA:1666
Scorpion Envenomation
Bundle branch block, Tachycardia, Ataxia, Cardiac conduction abnormality, Tremor, Congestive hear... ORPHA:466677
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Aspartylglucosaminuria
Macroorchidism, Mitral regurgitation OMIM:208400
Granulomatosis With Polyangiitis
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage OMIM:608710
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia ORPHA:438216
African Trypanosomiasis
Abnormal EKG, Pericarditis, Papilledema, Akinesia, Abnormality of the menstrual cycle, Tremor, My... ORPHA:3385
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy OMIM:617301
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Cherry red spot of the macula, Exaggerated startle response, Dystonia ORPHA:79255
Witteveen-Kolk Syndrome
Branchial fistula, Short stature, Growth delay, Intrauterine growth retardation, Iris coloboma OMIM:613406
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Optic atrophy OMIM:617281
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Tremor, Choreoathetosis, Cardiomyopathy, Dystonia, Abnorm... ORPHA:2131
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Unsteady gait, A... ORPHA:637
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... OMIM:164210
Aspartylglucosaminuria
Macroorchidism ORPHA:93
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Optic atrophy, Dystonia ORPHA:521426
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor... OMIM:300166
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Optic nerve hypoplasia OMIM:615574
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... ORPHA:649
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy OMIM:617527
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, Ataxia, ST segment depression, Hypotension, Abnormal T-... ORPHA:466650
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dystonia, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hemorrhage, Ischemic stroke... OMIM:175780
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Cyclopia ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Cyclopia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Cyclopia ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect, Cyclopia ORPHA:93924
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Raynaud phenomenon, Low-to-normal blood pressure... ORPHA:358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Broad-based gait, Precocious puberty, Inability ... ORPHA:438213
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Cryptorchidism ORPHA:444072
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Generalized Arterial Calcification Of Infancy
Transient ischemic attack, Choroidal neovascularization, Abnormal retinal artery morphology, Reti... ORPHA:51608
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... ORPHA:798
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio... OMIM:157170
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure OMIM:601992
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma OMIM:619539
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpo... OMIM:619522
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

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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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