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Gene: Arsj MGI:2443513

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Gene Summary

Name:
arylsulfatase J
Synonyms:
9330196J05Rik

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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
decreased total body fat amount Arsjem1(IMPC)J HOM Early adult 2.54×10-07
increased bone mineral content Arsjem1(IMPC)J HOM Early adult 5.61×10-06
increased bone mineral density Arsjem1(IMPC)J HOM Early adult 2.20×10-05
shortened RR interval Arsjem1(IMPC)J HOM Early adult 9.56×10-06
increased heart weight Arsjem1(IMPC)J HOM Early adult 6.64×10-05
increased heart rate Arsjem1(IMPC)J HOM Early adult 1.61×10-06
increased startle reflex Arsjem1(IMPC)J HOM Early adult 7.24×10-05
increased lean body mass Arsjem1(IMPC)J HOM Early adult 1.25×10-09

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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Electrocardiogram (ECG)

Waveform Image

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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
Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Multiple lipomas ORPHA:1879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis OMIM:166700
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... OMIM:615770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Atrial Standstill
Flexion contracture, Right bundle branch block, Ischemic stroke, Mobitz I atrioventricular block,... ORPHA:1344
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Failure to thrive OMIM:615198
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... ORPHA:166119
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Trimethylaminuria
Hypertension, Splenomegaly, Tachycardia OMIM:602079
Atrial Standstill 1
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... OMIM:108770
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Melorheostosis
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Atyp... ORPHA:2485
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Large for... ORPHA:45452
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Sick sinus syndrome, Bicuspid aortic valve, Failure to thrive, Ventricular... OMIM:616201
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis ORPHA:3416
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... OMIM:613507
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... OMIM:136300
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... OMIM:600858
Coproporphyria, Hereditary
Hypertension, Tachycardia, Splenomegaly, Hepatomegaly OMIM:121300
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Variegate Porphyria
Tachycardia OMIM:176200
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Abnormal c... ORPHA:90064
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... ORPHA:566943
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular septal hypertro... ORPHA:263297
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Tachycardia, Increased body weight ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tach... ORPHA:276556
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Ventricular tachycardia, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Congestive heart failure OMIM:605676
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Syncope, Tachycardia OMIM:192445
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Postural tremor, Retinal telangiectasia ORPHA:104
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Hepatomegaly, Splenomegaly, Vasculitis ORPHA:37748
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Flexion contracture, Ventricular septal defect, Interphalangeal thumb joint contracture, Hyperten... OMIM:613870
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tach... ORPHA:276575
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Large for gestational age, Hypertrophic cardiomyopathy, Palpitations, Hepatomegaly, Tach... ORPHA:276580
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis OMIM:607634
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Syncope, Large for gestational age, Palpitations, Hepatomegaly, Tachyc... ORPHA:324575
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Connective tissue nevi, Arthritis, Osteopoikilosis, Gen... ORPHA:1306
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... ORPHA:210110
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis OMIM:122860
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Weight loss OMIM:613239
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy... OMIM:611705
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Weight loss OMIM:188580
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... ORPHA:34217
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... OMIM:166600
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Flexion contracture, Failure to thrive, Prolonged QT interval, Tachycardia, Lipodys... OMIM:613327
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Patent foramen ovale, Ventricular septal defect, Small for gestational age, Pericardial effusion,... ORPHA:26793
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Increased bone mineral density, Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:611490
Autoimmune Hypoparathyroidism
Increased bone mineral density, Ventricular arrhythmia, Prolonged QT interval, Abnormal left vent... ORPHA:36913
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Failure to thrive, Hypertrophic cardiom... OMIM:618234
Tetanus
Stiff neck, Hypertension, Tremor, Opisthotonus, Bradycardia, Tachycardia ORPHA:3299
Combined Oxidative Phosphorylation Deficiency 54
Tremor, Obesity, Tachycardia OMIM:619737
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... OMIM:212138
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90037
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Tremor, Hepatomegaly, Tachycardia, Increased... ORPHA:263455
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Internal hemorrhage, Opisthotonus, Right ventricular hypertrophy, T... ORPHA:335
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Histiocytoid Cardiomyopathy
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... ORPHA:137675
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Endocarditis, Patent foramen ovale, Vent... ORPHA:1686
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Ebstein Anomaly
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... OMIM:224700
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... OMIM:115197
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Brugada Syndrome 2
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... OMIM:611777
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Bradycardia, Tachycardia ORPHA:70587
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation OMIM:612956
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Arrhythmogenic right ventricular dysplasia, familial, 2
Effort-induced polymorphic ventricular tachycardia, Dilatation of the ventricular cavity, Right v... OMIM:600996
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Failure t... OMIM:259700
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Acquired Methemoglobinemia
Syncope, Palpitations, Tachycardia, Arrhythmia ORPHA:464453
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Attrv30M Amyloidosis
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Hypertension, Opisthotonus OMIM:184850
Dysosteosclerosis
Recurrent fractures, Ventricular septal defect, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Decreased body weight, Recurrent fractures, Increased bone mineral den... OMIM:614856
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... ORPHA:77297
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis, Splenomegaly, Hepatomegaly OMIM:615085
Snakebite Envenomation
Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial... ORPHA:449285
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... ORPHA:57777
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171420
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Hypop... ORPHA:3426
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Craniosynostosis ORPHA:88643
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Graft Versus Host Disease
Limited elbow movement, Stiff interphalangeal joints, Arthritis, Fasciitis, Limited shoulder move... ORPHA:39812
Atrial Standstill 2
Dilatation of the ventricular cavity, Scarring, Atrial standstill, Atrial cardiomyopathy, Palpita... OMIM:615745
Mercury Poisoning
Hypotension, Hypertension, Tremor, Dystonia, Tachycardia ORPHA:330021
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Failure to thrive, Abnormal heart morphology, Abnormal tricuspid valve morp... ORPHA:485405
Paragangliomas 3
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:605373
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Gaucher Disease Type 1
Pulmonary arterial hypertension, Pericardial effusion, Increased bone mineral density, Abnormal m... ORPHA:77259
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia ORPHA:264675
Werner Syndrome
Chondrocalcinosis, Increased bone mineral density, Congestive heart failure, Hypertension, Myocar... ORPHA:902
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure, Splenomegaly ORPHA:90033
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... ORPHA:49827
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... ORPHA:980
Diastrophic Dysplasia
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility ORPHA:628
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Epistaxis, Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:612840
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Capillary leak, Arrhythmia,... ORPHA:542323
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Ventricular tachycardia, Syncope, Dilated cardiomyopathy OMIM:615821
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Myotonic Dystrophy 2
Premature ventricular contraction, Right bundle branch block, Palpitations, Tachycardia OMIM:602668
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Hepatosplenomegaly, Diaphyseal sc... OMIM:259710
Spondyloepiphyseal Dysplasia Tarda
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... ORPHA:93284
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic cardiomyopathy, ... OMIM:614702
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Increased bone density with cystic changes, Increased bone mineral density, Di... ORPHA:94089
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Osteolytic defects of the phalanges of the hand, Increased facial adipose tissue, Acroosteolysis ... ORPHA:280365
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... ORPHA:53
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Increased susceptibility to fractures, Weight loss, Syncope, Osteoporosis, Tachycard... ORPHA:98849
Hereditary Coproporphyria
Atypical scarring of skin, Tachycardia ORPHA:79273
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hepatomegaly OMIM:229700
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... OMIM:614921
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... ORPHA:85188
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Ankylosis, Failure to thrive, Macular scar, ... OMIM:239000
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Limited hip extension, Ventricular septal defect, Cornea... OMIM:614653
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Poems Syndrome
Pulmonary arterial hypertension, Weight loss, Pericardial effusion, Sclerosis of foot bone, Lipod... ORPHA:2905
Tularemia
Tachycardia ORPHA:3392
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Failure to thrive, Ventricul... OMIM:300952
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy, Generalized dystonia, Dystonia, Tachycardia OMIM:618321
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular tachycardia, Dystoni... OMIM:616878
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Enamel hypomineralization ORPHA:3352
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart murmur, Abno... ORPHA:439
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Paroxysmal supraventricular tachycardia, Osteopenia, Ar... OMIM:617877
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Coarse metaphyseal trabecularization, Facial hyperostosis, Aortic... ORPHA:2780
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... ORPHA:98855
Camurati-Engelmann Disease
Increased bone mineral density, Reduced subcutaneous adipose tissue, Cortical thickening of long ... OMIM:131300
Developmental And Epileptic Encephalopathy 101
Bradycardia, Third degree atrioventricular block, Limb joint contracture, Opisthotonus OMIM:619814
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Osteomyelitis, Cellulitis, Arthritis, Fasciitis, Shock, Capillary ... ORPHA:36234
Gaucher Disease Type 3
Mitral valve calcification, Increased susceptibility to fractures, Pulmonary arterial hypertensio... ORPHA:77261
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... ORPHA:98853
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Osteoporosis, Hepatomegaly, Arrhythmia, Cardiomegaly, S... OMIM:235200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Patent foramen ovale, Flexion contracture, Hernia, Enlarged kidn... ORPHA:505248
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Pycnodysostosis
Increased susceptibility to fractures, Enamel hypoplasia, Coronal craniosynostosis, Increased bon... ORPHA:763
Scorpion Envenomation
T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment depression... ORPHA:466677
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Relapsing Fever
Hypotension, Epistaxis, Tachycardia ORPHA:91547
Serotonin Syndrome
Hypotension, Tachycardia, Tremor, Hypertension ORPHA:43116
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Achilles tendon contracture, Supraventricular ar... ORPHA:98863
Sepsis In Premature Infants
Hypotension, Decreased body weight, Small for gestational age, Tachycardia, Hepatomegaly, Bradyca... ORPHA:90051
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Gaucher Disease
Abnormal pericardium morphology, Mitral valve calcification, Splenomegaly, Pulmonary arterial hyp... ORPHA:355
Eisenmenger Syndrome
Atrioventricular canal defect, Aortopulmonary window, Ventricular arrhythmia, Supraventricular ar... ORPHA:97214
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... OMIM:171300
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response, Flexion contracture OMIM:618201
Familial Dysautonomia
Recurrent fractures, Hypertension, Osteolysis, Orthostatic hypotension, Tachycardia ORPHA:1764
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular tachycardia, Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:159
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... OMIM:261740
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, Premature ventricular contraction, Ventricular tachycardia, Cardiom... ORPHA:423
Hyperekplexia 3
Exaggerated startle response, Syncope, Hiatus hernia OMIM:614618
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Premature ventricular contraction, Contracture of the distal interphalan... OMIM:617072
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Erdheim-Chester Disease
Abnormal pericardium morphology, Osteomyelitis, Weight loss, Increased bone mineral density, Abno... ORPHA:35687
Hyperoxaluria, Primary, Type I
Arterial occlusion, Increased bone mineral density, Intermittent claudication, Raynaud phenomenon... OMIM:259900
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Joint hypermobility, Supraventricular tachycardia with an accessory connect... ORPHA:404443
Trichothiodystrophy
Enamel hypoplasia, Absence of subcutaneous fat, Multiple joint contractures, Ventricular septal d... ORPHA:33364
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Ectopic ossification, Hyperostosis frontalis interna, Increased bone mineral d... ORPHA:79443
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis, Dystonia, Head titubation, Vestibular areflexia ORPHA:3240
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Splenomegaly, Hepatomegaly OMIM:618541
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlargement, Pericardial effusi... OMIM:618280
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal cardiac septum morphology, Increased bone mineral density, Syno... ORPHA:90652
Desmosterolosis
Increased bone mineral density, Failure to thrive, Anomalous pulmonary venous return, Osteopetros... ORPHA:35107
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... ORPHA:330001
Porphyria Variegata
Tachycardia, Scarring, Hypertension ORPHA:79473
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Wrist flexion contracture, Blepharospasm, Hip contracture, Decre... ORPHA:800
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Oculogyric crisis, Hypertension, Hypertensive crisis, Tremor, Ar... ORPHA:94093
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Ectopic ossification, Increased bone mineral density, Prolonged QT interval, L... ORPHA:79444
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hepatomegaly ORPHA:348
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Hepatosplenomegaly, Decreased osteoclast count, Hepatomegaly, Cra... OMIM:259720
Primary Hyperoxaluria
Recurrent fractures, Arterial occlusion, Intermittent claudication, Raynaud phenomenon, Generaliz... ORPHA:416
Ethylene Glycol Poisoning
Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Tachycardia, A... ORPHA:31826
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Massively thickened long bone ... ORPHA:1798
Imerslund-Gräsbeck Syndrome
Failure to thrive, Tachycardia, Weight loss ORPHA:35858
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
12Q14 Microdeletion Syndrome
Failure to thrive, Tremor, Osteopoikilosis ORPHA:94063
Hyperthyroidism, Nonautoimmune
Small for gestational age, Tachycardia OMIM:609152
Dysosteosclerosis
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... OMIM:224300
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia, Weight loss ORPHA:71273
Gitelman Syndrome
Hypotension, Failure to thrive, Prolonged QT interval, Ventricular tachycardia, Palpitations, Cho... OMIM:263800
Truncus Arteriosus
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... ORPHA:3384
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Carney Triad
Tachycardia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia ORPHA:139411
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Chondrocalcinosis, Decreased body weight, Lipoat... ORPHA:79474
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... ORPHA:2658
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Intracranial hemorrhage, Internal hemorrhage, Hypertension, S... ORPHA:340
X-Linked Hypophosphatemia
Vertebral hyperostosis, Cellulitis, Enthesitis, Arthritis, Limitation of joint mobility, Generali... ORPHA:89936
Rh Deficiency Syndrome
Tachycardia, Hepatosplenomegaly ORPHA:71275
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... ORPHA:555874
Cholera
Hypotension, Hypovolemic shock, Tachycardia ORPHA:173
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension OMIM:223900
Congenital Total Pulmonary Venous Return Anomaly
Supracardiac total anomalous pulmonary venous connection, Hepatomegaly, Tricuspid regurgitation, ... ORPHA:99125
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathet... OMIM:608643
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... OMIM:620066
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification OMIM:618476
Ogden Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Torsade de pointes, Supraventricular tachy... OMIM:300855
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Acute Intermittent Porphyria
Tachycardia, Tremor, Hypertension ORPHA:79276
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Hepatosplenomegaly OMIM:259730
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Mitral regurgitation, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Desmosterolosis
Joint contracture of the hand, Generalized osteosclerosis, Failure to thrive, Total anomalous pul... OMIM:602398
Autosomal Dominant Progressive External Ophthalmoplegia
Reduced left ventricular ejection fraction, Resting tremor, Ventricular arrhythmia, Left ventricu... ORPHA:254892
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Dilated cardiomyopathy, Ankylosis, Hypertension, Myocardial infarction,... OMIM:208000
Degcags Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Small for gesta... OMIM:619488
Raine Syndrome
Enamel hypoplasia, Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis m... OMIM:259775
Leukodystrophy, Hypomyelinating, 13
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:616881
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiome... OMIM:268800
Williams Syndrome
Sudden cardiac death, Abnormal cardiac septum morphology, Increased bone mineral density, Suprava... ORPHA:904
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Kenny-Caffey Syndrome, Type 2
Thickened cortex of long bones, Increased bone mineral density, Small for gestational age OMIM:127000
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Autosomal Recessive Malignant Osteopetrosis
Pulmonary arterial hypertension, Recurrent fractures, 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
Marburg Hemorrhagic Fever
Hypotension, Hypovolemia, Arthritis, Internal hemorrhage, Pericarditis, Shock, Capillary leak, Su... ORPHA:99826
Hyperekplexia 1
Inguinal hernia, Exaggerated startle response, Umbilical hernia OMIM:149400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Flexion contracture, Dilated cardiomyopathy, Atrial septal defect, ... OMIM:253800
Mirizzi Syndrome
Tachycardia ORPHA:521219
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Flexion contracture, Hip contracture, Elbow flexion contracture, Jo... OMIM:617301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Left bundle branch block, Ventricular bigeminy, Arrhythmia OMIM:610131
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Failure to thrive, Exaggerated startle response, Joint contracture OMIM:617864
Tsh-Secreting Pituitary Adenoma
Hypotension, Weight loss, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythm... ORPHA:91347
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... ORPHA:1457
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Prolonged QT interval, Obesity, Tachycardia ORPHA:1772
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormal dental enamel morphology ORPHA:2323
Plague
Endocarditis, Hypotension, Arthritis, Tachycardia, Hepatomegaly, Arrhythmia, Hematemesis, Splenom... ORPHA:707
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Splenomegaly, Hepatomegaly OMIM:612301
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Increased bone mineral density, Enamel hypoplasia, Increased sus... OMIM:119600
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormal odontoid tissue morphology, Hepatosplenomegaly, Dystonia, ... ORPHA:79255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Sarcoidosis
Abnormal cardiac ventricular function, Weight loss, Scarring, Heart block, Arrhythmia, Ventricula... ORPHA:797
Tay-Sachs Disease
Exaggerated startle response, Hepatosplenomegaly, Limited knee extension, Tremor, Laryngeal dysto... ORPHA:845
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Contractures of the large joints, Hyperextensibility of the finger ... ORPHA:521426
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Congenital diaphrag... OMIM:309801
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Exaggerated startle response, Tremor OMIM:618056
Asparagine Synthetase Deficiency
Failure to thrive, Exaggerated startle response OMIM:615574
Scalp-Ear-Nipple Syndrome
Multiple lipomas, Supraventricular tachycardia, Hypertension, Congestive heart failure, Cardiac m... OMIM:181270
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
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
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Decreased body weight, Recurrent fractures, Ventricular septal d... OMIM:602535
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Recurrent fractures, Failure to thrive, Hepatomegaly, Osteopetrosis ORPHA:2785
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Failure to thrive, Exaggerated startle response, Contractures of the large joints OMIM:617527
Legius Syndrome
Multiple lipomas, Paroxysmal atrial tachycardia, Mitral valve prolapse, Dystonia, Pulmonic stenosis ORPHA:137605
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Atrial septal defect, Thickened cortex of long bones, Failure to... OMIM:269150
Sclerosteosis 1
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, 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
Supraventricular tachycardia, Dilated cardiomyopathy, Cardiac conduction abnormality, Left ventri... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Patent foramen ovale, Exaggerated startle response, Ventricular septal defect, Bicuspid aortic va... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Ventricular septal defect, Atrial 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.

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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

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