banner
Genes Phenotypes Help, News, Blog

Gene: Arsj MGI:2443513

Log in to follow

Gene Summary

Name:
arylsulfatase J
Synonyms:
9330196J05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral density Arsjem1(IMPC)J HOM Early adult 2.20×10-05
increased bone mineral content Arsjem1(IMPC)J HOM Early adult 5.61×10-06
shortened RR interval Arsjem1(IMPC)J HOM Early adult 9.55×10-06
increased lean body mass Arsjem1(IMPC)J HOM Early adult 1.25×10-09
increased heart weight Arsjem1(IMPC)J HOM Early adult 5.95×10-05
increased heart rate Arsjem1(IMPC)J HOM Early adult 7.63×10-06
increased startle reflex Arsjem1(IMPC)J HOM Early adult 5.78×10-05
decreased total body fat amount Arsjem1(IMPC)J HOM Early adult 2.54×10-07

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

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Electroretinography 3

Fundus file

13 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Combined SHIRPA and Dysmorphology

Images

2 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

View images

Human diseases caused by Arsj 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 Arsj by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Hypertension ORPHA:1879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... OMIM:619897
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Osteomesopyknosis
Increased bone mineral density OMIM:166450
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Trimethylaminuria
Splenomegaly, Tachycardia, Hypertension OMIM:602079
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Tachycardia, Hypertension OMIM:121300
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Variegate Porphyria
Tachycardia OMIM:176200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Tachycardia, Increased body weight ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276556
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Leber Hereditary Optic Neuropathy
Arrhythmia, Postural tremor, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Vasculitis, Arthritis ORPHA:37748
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276575
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Hypertrophic cardiom... ORPHA:276580
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita... ORPHA:324575
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Weight loss OMIM:613239
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations, Weight loss OMIM:188580
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Prolonged QT interval, Tachycardia, Lipodystrophy, Atrial fibrillation,... OMIM:613327
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Abnormal left ventricular function, Laryng... ORPHA:36913
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis OMIM:611490
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestationa... ORPHA:26793
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Osteoporosis, Hypertrophi... OMIM:618234
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Tachycardia, Obesity OMIM:619737
Tetanus
Tachycardia, Stiff neck, Tremor, Opisthotonus, Hypertension, Bradycardia ORPHA:3299
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Tachycardia, Congestive heart failure ORPHA:90037
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Tremor, Increased body weight, Hypophosphat... ORPHA:263455
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Tachycardia, Opisthotonus OMIM:184850
Congenital Fibrinogen Deficiency
Tachycardia, Opisthotonus, Left ventricular hypertrophy, Internal hemorrhage, Right ventricular h... ORPHA:335
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Oste... OMIM:259700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... ORPHA:1782
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Splenomegaly, Flexion cont... ORPHA:77297
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Failure to thrive, Osteopetrosis OMIM:615085
Andersen-Tawil Syndrome
Joint laxity, Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular ta... ORPHA:37553
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
16P12.1P12.3 Triplication Syndrome
Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect... ORPHA:485405
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Fixed Subaortic Stenosis
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... ORPHA:3092
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... ORPHA:3426
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Cardiomegaly ORPHA:88643
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Graft Versus Host Disease
Dupuytren contracture, Fasciitis, Lipodystrophy, Tachycardia, Limited elbow movement, Limited sho... ORPHA:39812
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Mercury Poisoning
Tachycardia, Tremor, Hypertension, Hypotension, Dystonia ORPHA:330021
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Abnormal myocardi... ORPHA:77259
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Failure to thrive in infancy ORPHA:264675
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Werner Syndrome
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Myocardial infarction, Joint stiffnes... ORPHA:902
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Congestive heart failure ORPHA:90033
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Epistaxis, Splenomegaly, Hepatosplenomegaly, Osteopetrosis OMIM:612840
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Increased bone mineral density, Diaphyseal sclerosis, Increased bone densi... ORPHA:94089
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Dystonia, Hypertrophi... OMIM:614702
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... OMIM:614921
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... ORPHA:280365
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor... OMIM:614653
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia ORPHA:79273
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Osteopo... OMIM:239000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Tachycardia, Splenomegaly, Osteoporosis, Increased susceptibility to fractures, Wei... ORPHA:98849
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia OMIM:229700
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Tularemia
Tachycardia ORPHA:3392
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Generalized dystonia, Dilated cardiomyopathy, Dystonia, Left ventricular hypertrophy OMIM:618321
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Pericardial effusion, Weight loss,... ORPHA:2905
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopath... OMIM:616878
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... ORPHA:2780
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmon... OMIM:617877
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... ORPHA:98855
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Bacterial Toxic-Shock Syndrome
Shock, Fasciitis, Osteomyelitis, Tachycardia, Myocarditis, Capillary leak, Arthritis, Hypotension... ORPHA:36234
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... ORPHA:77261
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia, Opisthotonus OMIM:619814
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... ORPHA:98853
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro... OMIM:605676
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Osteoporosis, Telangiectasia,... OMIM:235200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Joint stiffness, Congestive heart failure, Flexion contract... ORPHA:505248
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Serotonin Syndrome
Tremor, Hypertension, Tachycardia, Hypotension ORPHA:43116
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Lipodystrophy, Sudden cardiac death, Joint stiffness, Supraventricular... ORPHA:98863
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Splenomegaly, Bradycardia, Hypotension, Dec... ORPHA:90051
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Mitral valve calcificati... ORPHA:355
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Tremor, Myocarditis, Congestive... ORPHA:466677
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Recurrent fractures, Osteolysis, Hypertension ORPHA:1764
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Cardiomyocyte mitochondrial proliferation, Ventricular tach... ORPHA:423
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardi... OMIM:618280
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... OMIM:259900
Hyperekplexia 3
Exaggerated startle response, Syncope, Hiatus hernia OMIM:614618
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Osteopetrosis, Dystonia ORPHA:3240
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Contracture of the distal interphalangeal joi... OMIM:617072
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... ORPHA:33364
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Increased bone mineral density, Obesity, Reduced bone mineral density, Cho... ORPHA:79443
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Abnormal pericardium morphology, Congestive heart ... ORPHA:35687
Porphyria Variegata
Hypertension, Tachycardia, Scarring ORPHA:79473
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Osteopetrosis OMIM:618541
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Abnormal heart valve morphology, ... ORPHA:90652
Desmosterolosis
Increased bone mineral density, Splenomegaly, Anomalous pulmonary venous return, Osteopetrosis, F... ORPHA:35107
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Increased bone mineral density, Obesity, Ectopic ossification, Enamel hypo... ORPHA:79444
Neuroleptic Malignant Syndrome
Tachycardia, Oculogyric crisis, Pulmonary embolism, Tremor, Hypertension, Bradycardia, Hypotensio... ORPHA:94093
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Primary Hyperoxaluria
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... ORPHA:416
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... OMIM:259720
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age OMIM:609152
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia ORPHA:348
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Weight loss ORPHA:35858
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
12Q14 Microdeletion Syndrome
Tremor, Osteopoikilosis, Failure to thrive ORPHA:94063
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Hepatom... ORPHA:99827
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Failure to thrive, Cho... OMIM:263800
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Lipoatrophy, Telangiectasia of the skin, ... ORPHA:79474
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Rh Deficiency Syndrome
Tachycardia, Hepatosplenomegaly ORPHA:71275
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Acute Intermittent Porphyria
Tremor, Hypertension, Tachycardia ORPHA:79276
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Sandhoff Disease, Infantile Form
Exaggerated startle response, Mitral valve prolapse, Mitral regurgitation, Hepatosplenomegaly ORPHA:309155
Ogden Syndrome
Torticollis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal ... OMIM:300855
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly OMIM:259730
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Atrial septal defect, Patent forame... OMIM:620327
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Total anomalous pulmonary venous retur... OMIM:602398
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Atrial fibrillation, Tremor, Dilated cardiomyopathy, Osteoporosis, Reduced left v... ORPHA:254892
Leukodystrophy, Hypomyelinating, 13
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:616881
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Ankylosis, Congestive heart failure, Dilated cardiomyopathy,... OMIM:208000
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Cardiomegaly, Hepatosplenome... OMIM:268800
Degcags Syndrome
Osteopenia, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestational age, Cran... OMIM:619488
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Atrial septal def... ORPHA:904
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Enamel hypoplasia, Subperiost... OMIM:259775
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones OMIM:127000
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Tremor,... ORPHA:667
Hyperekplexia 2
Exaggerated startle response, Hiatus hernia OMIM:614619
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, T... OMIM:253800
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Marburg Hemorrhagic Fever
Shock, Pericarditis, Tachycardia, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Arthri... ORPHA:99826
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... OMIM:617301
Mirizzi Syndrome
Tachycardia ORPHA:521219
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block OMIM:610131
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Joint contracture, Failure to thrive, Exaggerated startle response OMIM:617864
Tsh-Secreting Pituitary Adenoma
Osteopenia, Supraventricular arrhythmia, Pericardial effusion, Tremor, Congestive heart failure, ... ORPHA:91347
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity ORPHA:1772
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Plague
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Arthritis, Hypotension, Arrhy... ORPHA:707
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Hepatomegaly OMIM:612301
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... ORPHA:79255
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Limited knee extension, Laryn... ORPHA:845
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Scarring, Portal hypertension, Heart block, ... ORPHA:797
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Congestive heart failure, Hypertension, Multiple lipomas, Supraventricular tachyc... OMIM:181270
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Marshall-Smith Syndrome
Omphalocele, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Cr... OMIM:602535
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive OMIM:617527
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Recurrent fractures, Osteopetrosis, Pulmonary arterial hypertension, Failure to thrive ORPHA:2785
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Opisthotonus, Sclerosis of skull base, Atrial septal defect, Fai... OMIM:269150
Legius Syndrome
Paroxysmal atrial tachycardia, Mitral valve prolapse, Multiple lipomas, Pulmonic stenosis, Dystonia ORPHA:137605
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, ... ORPHA:438213
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response, Failure to thrive OMIM:615574
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Exaggerated startle response, Ventricular septal defect, Joint hypermobility OMIM:619522

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 Arsj

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 Arsj.

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

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
Arsjtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Arsjem1(IMPC)J Intra-exon deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter