Gene Summary

Name:
ATPase, Ca++ transporting, plasma membrane 3
Synonyms:
6430519O13Rik,  Pmca3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Atp2b3em1(IMPC)J HOM Late adult 2.57×10-05
decreased heart rate Atp2b3em1(IMPC)J HOM Late adult 2.93×10-05
decreased thigmotaxis Atp2b3em1(IMPC)J HOM Early adult 2.34×10-08
decreased locomotor activity Atp2b3em1(IMPC)J HOM Late adult 1.99×10-05
hyperactivity Atp2b3em1(IMPC)J HOM Early adult 2.88×10-05
abnormal coat/hair pigmentation Atp2b3em1(IMPC)J HEM Late adult 9.24×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Atp2b3 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 Atp2b3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia OMIM:302500
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Nonprogressive cerebellar ataxia, Unsteady gait ORPHA:314978

The table below shows human diseases predicted to be associated to Atp2b3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity, Motor tics OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Woolly hair, Ventricular arrhythmia, Syncope, Palpitations, Sud... OMIM:610476
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia OMIM:190200
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp... ORPHA:1808
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
His Bundle Tachycardia
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Woolly hair, Ventricular arrhythmia, Ventricular tachycardia, P... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Wo... OMIM:607450
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability OMIM:617028
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Ataxi... OMIM:256710
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Aggressive behavior OMIM:605899
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability OMIM:234500
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Abnormality of hair texture, Cardio... ORPHA:34217
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath... OMIM:615745
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Hyperprolinemia, Type I
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:239500
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri... OMIM:212138
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Atax... OMIM:277580
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Idiopathic Congenital Hypothyroidism
Lethargy, Bradycardia ORPHA:95717
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Truncal ataxia, Long eyebrows, Bradycardia OMIM:614407
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Sinus bradycardia, Loss of ambulation, Syncope, Palpitations, Second degree a... OMIM:616812
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Phenylketonuria
Irritability, Hyperactivity, Depression, Compulsive behaviors, Attention deficit hyperactivity di... OMIM:261600
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Iris hypopigmentation, Ataxia, Partial albinism ORPHA:79476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Obesity And Hypopigmentation
Red hair OMIM:620195
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Gait disturbance, Bradycardia OMIM:609286
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul... ORPHA:3077
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Naxos Disease
Congestive heart failure, Nail dystrophy, Right ventricular cardiomyopathy, Paroxysmal ventricula... OMIM:601214
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:615541
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Abnormal Hair, Joint Laxity, And Developmental Delay
Trichorrhexis nodosa, Small nail, Tricuspid regurgitation, Sparse lateral eyebrow, Fragile nails,... OMIM:261990
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Distichiasis OMIM:126320
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Depression, Compulsive behaviors, Self-injurious behavior, Aggressive behavior OMIM:619467
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of laughter OMIM:618718
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Congenital Disorder Of Glycosylation, Type Im
Bradycardia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Alopecia OMIM:610768
Familial Thyroid Dyshormonogenesis
Lethargy, Bradycardia ORPHA:95716
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Illum Syndrome
Bradycardia OMIM:208155
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr... OMIM:261740
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Self-injurious behavior, Aggressive behavior ORPHA:382
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Gait disturbanc... ORPHA:100
Pseudo-Torch Syndrome 2
Lethargy, Cerebral hemorrhage, Bradycardia OMIM:617397
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Mottled pigmentation, Bradycardia ORPHA:226313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Bradycardia OMIM:232500
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac... OMIM:620141
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Congenital Myopathy 22A, Classic
Waddling gait, Bradycardia, Tricuspid regurgitation, Synophrys OMIM:620351
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Multiple lentigines, Silver-gray hair, Waddling gait, Vitiligo ORPHA:101003
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment ORPHA:1055
Histidinemia
Hyperactivity ORPHA:2157
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Inability to walk, Hypopigmentation of hair, Hypertrophic cardiomyopath... ORPHA:70472
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Bradycardia, Atrial fibrillation, Hirsutism, Tachycardia OMIM:613327
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Necrotizing Enterocolitis
Lethargy, Shock, Hypotension, Bradycardia ORPHA:391673
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Loss of ambulation, Bradycardia ORPHA:565624
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cafe-au-lait spot, Cerebral hemorrhage, Positive... OMIM:171420
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ... OMIM:203300
Graves Disease
Hyperactivity, Irritability, Polyphagia OMIM:275000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Lethargy,... OMIM:277400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Blotching pigmentation of the skin OMIM:614653
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Bradycardia ORPHA:90673
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion... OMIM:160980
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Irritability, Hyperactivity, Depression, Recurrent hand flapping, Motor... ORPHA:449291
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Proximal Spinal Muscular Atrophy
Difficulty walking, Inability to walk, Bradycardia ORPHA:70
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Sheehan Syndrome
Breast hypoplasia, Orthostatic hypotension, Bradycardia, Sparse pubic hair, Sparse axillary hair,... ORPHA:91355
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:98795
D-Glyceric Aciduria
Bradycardia OMIM:220120
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:411511
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Neuroleptic Malignant Syndrome
Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e... ORPHA:94093
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Fair hair OMIM:614613
Lujo Hemorrhagic Fever
Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock ORPHA:319213
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Ataxia, Generalized hyperpigmentati... ORPHA:3322
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Attention deficit hyperactivity disorder, Motor stereotypy, Aggressive behavior OMIM:610042
Isolated Thyroid-Stimulating Hormone Deficiency
Lethargy, Bradycardia ORPHA:90674
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Crimean-Congo Hemorrhagic Fever
Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal... ORPHA:99827
Bohring-Opitz Syndrome
Bradycardia, Inability to walk, Hypertrichosis, Synophrys ORPHA:97297
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Hypopigmentation of hair, Broad-based gait, Hypopigmentation of the skin, Iris hy... ORPHA:98794
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of... OMIM:214500
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj... ORPHA:99826
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Cafe... OMIM:611584
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Bradycardia OMIM:218700
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Severe Generalized Junctional Epidermolysis Bullosa
Nail dystrophy, Bradycardia, Abnormality of the nail, Anonychia, Dilated cardiomyopathy, Paronych... ORPHA:79404
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Lethargy, Bradycardia ORPHA:226307
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Brittle Cornea Syndrome
Pulmonic stenosis, Abnormality of hair pigmentation, Gait disturbance ORPHA:90354
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopat... ORPHA:79430
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Athetosis, Iris hypopigmentation, Ataxia, Ocular albinism ORPHA:2719
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability OMIM:620047
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Ch├ędiak-Higashi Syndrome
Inability to walk, Hypopigmentation of hair, Hypopigmentation of the skin, Gait disturbance, Larg... ORPHA:167
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Syndromic Diarrhea
Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h... ORPHA:84064
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Lethargy, Hypopigmentation of hair ORPHA:398079
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Difficulty walking OMIM:619482
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Vici Syndrome
Congestive heart failure, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin,... OMIM:242840
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Lethargy, Hypopigmentation of hair ORPHA:398069
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s... ORPHA:177907
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmentatio... OMIM:619488
Prader-Willi Syndrome
Hypertension, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98754
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Intracranial hemorrhage, Spar... ORPHA:565
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177901
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair ORPHA:818
Holt-Oram Syndrome
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non... OMIM:142900
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia OMIM:302500
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Nonprogressive cerebellar ataxia, Unsteady gait ORPHA:314978

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 Atp2b3

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 Atp2b3.

No publications found that use IMPC mice or data for Atp2b3.

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
Atp2b3tm41098(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atp2b3tm41098(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Atp2b3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atp2b3em1(IMPC)J Exon Deletion Mice
Atp2b3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Atp2b3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter