Gene Summary

Name:
WD repeat and FYVE domain containing 1
Synonyms:
1700013B03Rik,  Jr1,  1700120F24Rik

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 auditory brainstem response Wdfy1em1(IMPC)J HOM   Early adult 0.000326
decreased grip strength Wdfy1em1(IMPC)J HOM Early adult 7.46×10-05
increased heart rate Wdfy1em1(IMPC)J HOM   Early adult 3.96×10-05

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.

Electrocardiogram (ECG)

Waveform Image

15 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Wdfy1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Wdfy1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Sinoatrial Node Dysfunction And Deafness
Hearing impairment, Bradycardia OMIM:614896
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Nathalie Syndrome
Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Hydroxykynureninuria
Hypotension, Hearing impairment, Tachycardia OMIM:236800
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Variegate Porphyria
Tachycardia OMIM:176200
Jervell And Lange-Nielsen Syndrome 1
Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged QT interval, Torsade... OMIM:220400
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Jervell And Lange-Nielsen Syndrome 2
Congenital sensorineural hearing impairment, Sudden cardiac death, Sensorineural hearing impairme... OMIM:612347
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Tachycardia OMIM:221400
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia, Abnormality o... ORPHA:90064
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Atrial flutter, Tricuspid regurgit... OMIM:614022
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Hypertension, Posteriorly ro... OMIM:613870
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal autonomic nervous system physiology, Sudden ... ORPHA:101016
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, Pulsatile tinnitus OMIM:605373
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Paragangliomas 1
Palpitations, Hypertension associated with pheochromocytoma, Conductive hearing impairment, Pulsa... OMIM:168000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276556
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Facial palsy, Third degree atrioventricular block, Dilated cardiomyop... OMIM:601419
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Tachycardia, Hypertrophic cardiomyopathy, Syncope ORPHA:276580
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Ventricular fibrillation, Profound sensorineural hearing impairme... ORPHA:90647
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Syncope ORPHA:324575
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Tetanus
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Hypertension, Tachyc... ORPHA:3299
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Hydroxykynureninuria
Hypotension, Tachycardia, Congenital sensorineural hearing impairment ORPHA:79155
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Myocardial infarction, Tachyc... ORPHA:449285
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Interictal EEG abnormality, Optic disc pallor ORPHA:79264
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, EEG abnormality, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Hypsarrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval... ORPHA:542306
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Sensorineural hearing impairment, Congestive heart failure, Cardia... ORPHA:49827
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Myotonic Dystrophy 2
Palpitations, Tachycardia OMIM:602668
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Aborted sudden cardiac death, Tachycardia, Dilated cardiomyopathy OMIM:614921
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Autonomic bladder dysfunction, ... ORPHA:330001
Hereditary Coproporphyria
Tachycardia, Long hairs growing from helix of pinna ORPHA:79273
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Tularemia
Tachycardia ORPHA:3392
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Paragangliomas 4
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia, Pulsatile tinnitus OMIM:115310
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Ventricular tachycardia, Ventricular fibrillation, Sensorineural hearing impa... OMIM:616878
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Abnormal autonomic nervous system physiology OMIM:614498
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Lipodystrophy, Congenital Generalized, Type 4
Tachycardia, Atrial fibrillation, Prolonged QT interval, Bradycardia OMIM:613327
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Serotonin Syndrome
Hypotension, Abnormality of the autonomic nervous system, Tachycardia, Hypertension ORPHA:43116
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Bradycardia OMIM:617248
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Facial palsy, Tachycardia, Congestive heart failu... ORPHA:31826
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Stiff-Person Syndrome
Tachycardia, Hypertension OMIM:184850
16P12.1P12.3 Triplication Syndrome
Tachycardia, Large earlobe ORPHA:485405
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Renal Nutcracker Syndrome
Tachycardia, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Syncope ORPHA:71273
Double Outlet Right Ventricle
Pulmonic stenosis, Heart murmur, Tachycardia ORPHA:3426
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
Porphyria Variegata
Tachycardia, Abnormal autonomic nervous system physiology, Hypertension ORPHA:79473
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Ogden Syndrome
Arrhythmia, Macrotia, Ventricular extrasystoles, Ventricular tachycardia, Supraventricular tachyc... OMIM:300855
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Abnormal autonomic nervous system physiology, Hyper... ORPHA:94093
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Familial Dysautonomia
Hypertension, Optic atrophy, Tachycardia, Orthostatic hypotension ORPHA:1764
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Ventricular extrasystoles, Ventricular tachycardia, High-output con... ORPHA:423
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Tachycardia, Orthostatic hypotension OMIM:223900
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmonary arterial hypertension, ... ORPHA:505248
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Progressive hearing impairment, Cardiomyopathy OMIM:609286
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Posteriorly rotated ears, Pulmonic stenosis, Conductive hearing impairment, Paroxysmal supraventr... OMIM:617877
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Prominent antihelix, Atrioventricular block, Bradycardia, Macrotia OMIM:614407
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal heart rate variability, Hearing impairme... ORPHA:206436
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cholera
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Eisenmenger Syndrome
Ventricular arrhythmia, Palpitations, Right ventricular failure, Hepatojugular reflux, Supraventr... ORPHA:97214
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Graft Versus Host Disease
Tachycardia ORPHA:39812
Gitelman Syndrome
Hypotension, Palpitations, Prolonged QT interval, Ventricular tachycardia OMIM:263800
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Bilateral sensorineural hearing impairment, Brad... ORPHA:40366
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Illum Syndrome
Bradycardia OMIM:208155
Cockayne Syndrome Type 1
Macrotia, Hypertension, Hearing impairment, Absent brainstem auditory responses, Abnormality of p... ORPHA:90321
Combined Oxidative Phosphorylation Defect Type 39
Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity, Bradycardia, Optic disc pallor ORPHA:565624
Glossopharyngeal Neuralgia
Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Jaw claudication, Bradycar... ORPHA:221098
Cockayne Syndrome A
Arrhythmia, Abnormality of the pinna, Hypertension, Abnormal auditory evoked potentials, Sensorin... OMIM:216400
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Bradycardia ORPHA:95716
Mirizzi Syndrome
Tachycardia ORPHA:521219
Cockayne Syndrome B
Arrhythmia, Abnormality of the pinna, Hypertension, Abnormal auditory evoked potentials, Sensorin... OMIM:133540
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
45,X/46,Xy Mixed Gonadal Dysgenesis
Low-set, posteriorly rotated ears, Hearing impairment, Tachycardia, Prolonged QT interval ORPHA:1772
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,... ORPHA:404443
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Plague
Arrhythmia, Hematemesis, Hypotension, Hearing impairment, Tachycardia ORPHA:707
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Mend Syndrome
Aortic valve stenosis, Abnormal auditory evoked potentials ORPHA:401973
Truncus Arteriosus
Abnormal heart valve physiology, Tachycardia, Pulmonic stenosis, Aortic regurgitation ORPHA:3384
Steinert Myotonic Dystrophy
Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular systolic dysfunction, Atr... ORPHA:273
Sheehan Syndrome
Palpitations, Sensorineural hearing impairment, Bradycardia, Orthostatic hypotension ORPHA:91355
Proximal Spinal Muscular Atrophy
Facial diplegia, Bradycardia ORPHA:70
Sarcoidosis
Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, Facial palsy, Heart b... ORPHA:797
Encephalitis Lethargica
Bradycardia ORPHA:83600
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... ORPHA:99125
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Optic atrophy, Bradycardia ORPHA:97297
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia ORPHA:90674
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia, Abnormality of the pinna OMIM:614437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Sensorineural hearing impairment, Optic nerve hypoplasia, Bradycardia ORPHA:226307
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404

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 Wdfy1

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 Wdfy1.

No publications found that use IMPC mice or data for Wdfy1.

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MGI Allele Allele Type Produced
Wdfy1em1(IMPC)J Exon Deletion Mice
Wdfy1tm49304(L1L2_Bact_P) Targeting vectors

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