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Gene: Enpp2 MGI:1321390

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ectonucleotide pyrophosphatase/phosphodiesterase 2
Synonyms:
Pdnp2,  PD-Ialpha,  Npps2,  ATX,  Autotaxin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Enpp2 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 Enpp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature OMIM:618453
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Wildervanck Syndrome
Meningocele ORPHA:3456
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Humero-Radial Synostosis
Meningocele ORPHA:3265
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... ORPHA:268810
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Triploidy
Polyhydramnios, Hydrocephalus, Meningocele, Holoprosencephaly, Intrauterine growth retardation ORPHA:3376
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Dystonia 23
Arrhythmia OMIM:614860
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... OMIM:181350
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta ORPHA:230839
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Polyhydramnios, Spina bifida, Edema OMIM:616038
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Tricuspid regurgitation, Spina bifida ORPHA:1120
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia OMIM:600145
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fountain Syndrome
Facial edema, Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencep... ORPHA:63259
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Meningocele, Umbilical hernia, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay OMIM:614424
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Meningocele ORPHA:2481
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Paroxysmal supraventricular tachycardia, Pulmonic stenosis, Arrhythmia, Spina bifi... OMIM:617877
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... ORPHA:85451
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature ORPHA:2928
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Aqueductal stenosis, Hydrocephalus, Intrauterine growth retardation ORPHA:3412
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... ORPHA:398124
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Short stature, Arrhythmia, Pulmonic stenosis, Aortic valve stenosis ORPHA:228410
Ebstein Malformation Of The Tricuspid Valve
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Patent ductus arteriosus, Ri... ORPHA:1880
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Growth delay, Hypertension, Arrhythmia, Neonatal death, Umbilical hernia, Hypertrophic cardiomyop... OMIM:614052
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Lateral Meningocele Syndrome
Short stature, Patent ductus arteriosus, Hydrocephalus, Meningocele, Umbilical hernia OMIM:130720
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Patent ductus arteriosus, Hydrops fetalis, Intrauterine growth reta... ORPHA:99776
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Growth delay, Arrhythmia, Intrauterine growth retardation, Hypertrophic... ORPHA:1194
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pat... ORPHA:1686
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Pagod Syndrome
Encephalocele, Short stature, Sudden cardiac death, Spina bifida, Meningocele, Arrhythmia ORPHA:991
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Short stature, Myocardial infarction, Growth delay, Hypertrophic cardiomyopa... ORPHA:500
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios OMIM:613776
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Dk1-Cdg
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Short stature ORPHA:91131
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Occipital meningocele OMIM:616546
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Trisomy 18
Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re... ORPHA:3380
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Arrhythmia, Short stature OMIM:249270
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Hydrops fetalis ORPHA:2879
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia ORPHA:60040
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, Congestive heart failur... ORPHA:363705
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature, Arrhythmia ORPHA:254913
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Short stature ORPHA:772
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature OMIM:600430
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature ORPHA:3191
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Short stature, Arrhythmia, Pulmonic stenosis OMIM:611553
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... ORPHA:1677
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Neu-Laxova Syndrome
Intrauterine growth retardation, Polyhydramnios, Spina bifida ORPHA:2671
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Focal Dermal Hypoplasia
Umbilical hernia, Patent ductus arteriosus, Telangiectasia of the skin, Spina bifida ORPHA:2092
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype... OMIM:301500
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Neu-Laxova Syndrome 1
Spina bifida, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Short umbilical cord, Small p... OMIM:256520
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Arrhythmia ORPHA:254346
Hemochromatosis, Type 1
Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia OMIM:235200
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:266500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Hallermann-Streiff Syndrome
Proportionate short stature, Spina bifida, Telangiectasia, Hypertension, Pulmonary arterial hyper... OMIM:234100
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature ORPHA:3201
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature ORPHA:2238
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension OMIM:162200
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Short stature, Third degree atrioventricular block OMIM:530000
Ogden Syndrome
Postnatal growth retardation, Cardiogenic shock, Arrhythmia ORPHA:276432
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Short stature, Spina bifida, Hydrocephalus, Meningocele, Patent duct... ORPHA:567
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation, Short stature ORPHA:261211
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Hypovolemic shock, Arrhythmia ORPHA:171876
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Arrhythmia ORPHA:57
Fibular Hemimelia
Spina bifida ORPHA:93323
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:26791
Rheumatic Fever
Myocarditis, Pericarditis, Epistaxis, Arrhythmia ORPHA:3099
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Renal tubular epithelial necrosis, Arrhythmia ORPHA:157
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... ORPHA:573278
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr... ORPHA:85443
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly, Arrhythmia ORPHA:2162
Fanconi Anemia
Short stature, Spina bifida, Patent ductus arteriosus, Hydrocephalus, Growth delay, Umbilical her... ORPHA:84
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia OMIM:619184
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Truncus arteriosus, Short stature, Spina bifida ORPHA:508498
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hydrocephalus, Renal tubular epithelial necrosis, Cardiomyopathy, Arrhythmia ORPHA:228308
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:188
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Ogden Syndrome
Short stature, Postnatal growth retardation, Patent ductus arteriosus, Ventricular tachycardia, P... OMIM:300855
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia ORPHA:33001
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia ORPHA:397
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated jugular venou... ORPHA:465508
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Short stature, Spina bifida, Edema of the dorsum of hands, Patent du... OMIM:274000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Vater/Vacterl Association
Occipital encephalocele, Spina bifida, Postnatal growth retardation, Patent ductus arteriosus, Pa... OMIM:192350
Singleton-Merten Syndrome 2
Arrhythmia, Aortic valve stenosis, Short stature OMIM:616298
Jacobsen Syndrome
Short stature, Spina bifida, Growth delay, Intrauterine growth retardation, Aortic valve stenosis ORPHA:2308
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia ORPHA:746
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... ORPHA:324
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia ORPHA:2710
Legionnaires Disease
Myocarditis, Pericarditis, Arrhythmia, Hypotension ORPHA:549
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy OMIM:609015
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Campomelic Dysplasia
Polyhydramnios, Spina bifida, Hydrocephalus, Spinal dysraphism, Disproportionate short-limb short... OMIM:114290
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Hennekam-Beemer Syndrome
Arrhythmia, Short stature, Telangiectasia of the skin, Hypotension ORPHA:2135
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Mgat2-Cdg
Reflex asystolic syncope, Patent ductus arteriosus, Arrhythmia ORPHA:79329
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Cardiomyopathy, Arrhythmia ORPHA:228305
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Patent ductus arteriosus, Arrhythmia ORPHA:1519
Arima Syndrome
Growth delay, Occipital meningocele, Hypertension OMIM:243910
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage OMIM:608836
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Short stature, Growth delay, Hypertension, Cardiomyopathy, Umbilical... ORPHA:580
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... ORPHA:100078
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Hydrocephalus, Cardiomyo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Hydrocephalus, Cardiomyo... ORPHA:363958
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Growth delay, Delayed puberty, Arrh... ORPHA:231226
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 1
Short stature, Junctional ectopic tachycardia, Hydrocephalus, Histiocytoid cardiomyopathy, Arrhyt... OMIM:309801
Mucopolysaccharidosis Type 2, Severe Form
Short stature, Heart murmur, Growth delay, Hypertension, Cardiomyopathy, Umbilical hernia, Arrhyt... ORPHA:217085
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac de... ORPHA:906
Mucopolysaccharidosis Type 2, Attenuated Form
Short stature, Heart murmur, Growth delay, Hypertension, Cardiomyopathy, Umbilical hernia, Arrhyt... ORPHA:217093
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Schwartz-Jampel Syndrome
Umbilical hernia, Arrhythmia, Short stature, Pulmonary arterial hypertension ORPHA:800
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... ORPHA:94093
Botulism
Arrhythmia ORPHA:1267
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature ORPHA:3220
Kleefstra Syndrome
Arrhythmia, Short stature ORPHA:261494
Foodborne Botulism
Arrhythmia ORPHA:228371
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia OMIM:153400
Marfan Syndrome
Congestive heart failure, Meningocele ORPHA:558
Rubinstein-Taybi Syndrome 1
Short stature, Polyhydramnios, Spina bifida, Postnatal growth retardation, Patent ductus arterios... OMIM:180849
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Localized Scleroderma
Raynaud phenomenon, Arrhythmia, Vasculitis ORPHA:90289
Leber Optic Atrophy
Arrhythmia OMIM:535000
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Growth delay, Delayed puberty, Arrh... ORPHA:231214
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypertension, Normal pressure hydrocephalus, ... OMIM:133540
Cockayne Syndrome A
Short stature, Severe postnatal growth retardation, Hypertension, Normal pressure hydrocephalus, ... OMIM:216400
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Myelopathy, Congestive heart failure, Second degree atri... ORPHA:3385
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia ORPHA:565612
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert... ORPHA:258
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h... OMIM:304120
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Ulnar-Mammary Syndrome
Arrhythmia, Short stature, Delayed puberty ORPHA:3138
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Growth dela... ORPHA:2556
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Costello Syndrome
Short stature, Hydrocephalus, Arrhythmia, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:218040
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia ORPHA:68
Familial Mediterranean Fever
Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction ORPHA:342
Simpson-Golabi-Behmel Syndrome, Type 1
Patent ductus arteriosus, Hydrocephalus, Cardiomyopathy, Pulmonic stenosis, Umbilical hernia, Arr... OMIM:312870
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia ORPHA:2331
Noonan Syndrome
Arrhythmia, Short stature ORPHA:648
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Arrhythmia ORPHA:285
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Disproportionate short stature, Rhizomelia OMIM:250220
Proteasome-Associated Autoinflammatory Syndrome 1
Growth delay, Congestive heart failure, Arrhythmia, Short stature OMIM:256040
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature OMIM:276820
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Sarcoidosis
Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Heart block, Ventricula... ORPHA:797
Stickler Syndrome
Arrhythmia, Short stature ORPHA:828
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Ulnar-Mammary Syndrome
Arrhythmia, Delayed puberty OMIM:181450

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 Enpp2

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 Enpp2.

No publications found that use IMPC mice or data for Enpp2.

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