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

ectonucleotide pyrophosphatase/phosphodiesterase 2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Frontal Encephalocele
Hydrocephalus, Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Cerebral calcification ORPHA:1931
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature OMIM:618453
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Hypertrophic cardiomyopathy OMIM:300696
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Arrhythmia, Patent ductus arteriosus, Hypertension OMIM:617021
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Schisis Association
Microcephaly, Spina bifida, Anencephaly ORPHA:63862
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Patent ductus arteriosus, Sudden cardiac death, Cong... OMIM:604169
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus OMIM:207950
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Ventricular preexcitation ORPHA:104
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta ORPHA:230839
Amish Lethal Microcephaly
Microcephaly, Spina bifida, Agenesis of corpus callosum, Lissencephaly ORPHA:99742
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Dystonia 23
Arrhythmia OMIM:614860
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Microcephaly, Spina bifida, Short stature ORPHA:1327
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Spinal dysraphism, Anencephaly, Men... ORPHA:1908
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Spina bifida, Sirenomelia ORPHA:3169
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Meningocele, Hydranencephaly, Cerebral calcification, Short sta... ORPHA:1393
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Hydromyelia, Lipomyelomeningocele, Hydroc... ORPHA:268810
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta, Facial edema ORPHA:3219
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus, Tricuspid regurgitation ORPHA:1120
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Intrauterine growth retardation, Mic... OMIM:611134
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Arrhythmia, Dilated cardiomyopathy OMIM:181350
Polyhydramnios, Spina bifida, Holoprosencephaly, Rhizomelia, Spinal dysraphism, Anencephaly, Myel... ORPHA:63259
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Barth Syndrome
Arrhythmia, Growth delay, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomy... OMIM:302060
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Intrauterine growth retardation OMIM:603194
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Cardiomyopathy, Familial Hypertrophic, 21
Arrhythmia, Cardiomyopathy OMIM:614676
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature ORPHA:2928
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Combined Oxidative Phosphorylation Deficiency 10
Arrhythmia, Hypertrophic cardiomyopathy OMIM:614702
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Arrhinencephaly, Aqueductal stenosis, Intrauterine growth retardati... ORPHA:3412
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Atrioventricular block, Prolong... ORPHA:398124
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Hydranencephaly, Short stature, Neonatal shor... ORPHA:2839
Neu-Laxova Syndrome
Polyhydramnios, Spina bifida, Pachygyria, Absent septum pellucidum, Polymicrogyria, Abnormal cort... ORPHA:2671
Mosaic Trisomy 9
Polyhydramnios, Spina bifida, Hydrops fetalis, Oligohydramnios, Patent ductus arteriosus, Intraut... ORPHA:99776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Eosinophilia, Cardiogenic ... ORPHA:75565
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy ORPHA:85447
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Growth delay, Congestive heart failure, Intrauterine growth retardation, Hypertrophic... ORPHA:1194
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Bundle branch block, Growth delay, Pulmonic stenosis, Myocardial infarction, Short st... ORPHA:500
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Polyvalvular Heart Disease Syndrome
Arrhythmia, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosis, Short stature ORPHA:228410
Trisomy 18
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Oligohydramnios, Holoprosencephaly, Grow... ORPHA:3380
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Patent ductus arteriosus, Sudden cardiac death, Congestive heart... ORPHA:1880
Congenital Hypothyroidism
Arrhythmia, Hypotension, Hypertension, Umbilical hernia, Short stature ORPHA:442
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Stillbirth, Patent ductus arteriosus, Hydrane... OMIM:256520
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Hypertension, Umbilical hernia, Intrauterine growth retardation, Hypertrophic cardiom... OMIM:614052
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Abnormal left ventricular function OMIM:618098
Arrhythmia, Cardiac arrest, Gastrointestinal hemorrhage, Epistaxis ORPHA:99745
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99104
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Abnormal atrioventr... ORPHA:732
Pagod Syndrome
Spina bifida, Arrhythmia, Meningocele, Sudden cardiac death, Short stature ORPHA:991
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Short stature, Arrhythmia OMIM:249270
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Hec Syndrome
Arrhythmia, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Arrhythmia, Hydrocephalus, Cerebral ischemia, Telangiectasia of the skin ORPHA:60040
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Infantile Refsum Disease
Cardiomyopathy, Short stature, Arrhythmia ORPHA:772
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature ORPHA:3191
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature, Hypertension, Pulmonary arterial hypertension, Telangi... OMIM:234100
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature OMIM:600430
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:156
Danon Disease
Arrhythmia, Wolff-Parkinson-White syndrome, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, ... OMIM:300257
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Bradycardia, Cardiomyopathy OMIM:609286
Noonan Syndrome 5
Pulmonic stenosis, Arrhythmia, Short stature, Hypertrophic cardiomyopathy OMIM:611553
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Hemochromatosis, Type 1
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Delayed puberty, Congestive hea... OMIM:301500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Focal Dermal Hypoplasia
Spina bifida, Patent ductus arteriosus, Umbilical hernia, Telangiectasia of the skin ORPHA:2092
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele OMIM:193500
19P13.12 Microdeletion Syndrome
Intrauterine growth retardation, Mitral regurgitation, Arrhythmia, Aortic regurgitation ORPHA:254346
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Cardiomyopathy, Myocarditis ORPHA:3386
Thrombocytopenia-Absent Radius Syndrome
Cavum septum pellucidum, Spina bifida, Edema of the dorsum of hands, Short stature, Edema of the ... OMIM:274000
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Hypertension, Heart murmur, Left anterior fascicu... ORPHA:437572
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Postnatal growth retardation, Polymicrogyria, ... OMIM:304050
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature ORPHA:3201
Ataxia With Vitamin E Deficiency
Arrhythmia, Hypertrophic cardiomyopathy ORPHA:96
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature ORPHA:2238
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Kearns-Sayre Syndrome
Cardiomyopathy, Third degree atrioventricular block, Short stature, Arrhythmia OMIM:530000
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Kniest-Like Dysplasia, Lethal
Rhizomelia, Lethal short-limbed short stature, Arrhythmia, Patent ductus arteriosus OMIM:245190
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Ogden Syndrome
Arrhythmia, Ventricular extrasystoles, Postnatal growth retardation, Ventricular tachycardia, Sup... OMIM:300855
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Tricuspid regurgitation, Short stature, Arrhythmia ORPHA:261211
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Ogden Syndrome
Cardiogenic shock, Arrhythmia, Postnatal growth retardation ORPHA:276432
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hypertension, Short stature, Hydrocephalus OMIM:162200
Lymphedema-Distichiasis Syndrome
Arrhythmia, Patent ductus arteriosus OMIM:153400
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Basal Cell Nevus Syndrome
Spina bifida, Hydrocephalus, Calcification of falx cerebri OMIM:109400
Rheumatic Fever
Epistaxis, Arrhythmia, Pericarditis, Myocarditis ORPHA:3099
Fibular Hemimelia
Spina bifida ORPHA:93323
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hypovolemic shock, Proportionate short stature ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Arrhythmia ORPHA:57
22Q11.2 Deletion Syndrome
Spina bifida, Truncus arteriosus, Gastrointestinal hemorrhage, Arrhinencephaly, Patent ductus art... ORPHA:567
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctival hemorrhage, Hyp... ORPHA:340
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Anencephaly, Spina bifida occulta, Myelomeningocele, Hydrocep... ORPHA:2369
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Hepatic periportal necrosis, Cardiomyopathy, Arrhythmia ORPHA:26791
Lymphedema-Distichiasis Syndrome
Arrhythmia, Patent ductus arteriosus ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Arrhythmia, Hydrocephalus, Cardiomyopathy ORPHA:157
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Intrauterine growth retardation, Arrhythmia, Postnatal growth retardation OMIM:619184
Fanconi Anemia
Spina bifida, Growth delay, Patent ductus arteriosus, Umbilical hernia, Short stature, Intrauteri... ORPHA:84
Jacobsen Syndrome
Spina bifida, Pachygyria, Growth delay, Cerebral atrophy, Short stature, Intrauterine growth reta... ORPHA:2308
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Elevated jugular venous pressure, Congestive heart failure, Portal hypertension, Card... ORPHA:465508
Arrhythmia, Branchial anomaly, Holoprosencephaly, Spinal dysraphism, Hydrocephalus ORPHA:2162
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vascu... ORPHA:727
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Renal tubular epithelial necrosis, Heart block, Hydrocephalus, Cardiomyopathy ORPHA:228308
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Tela... ORPHA:93672
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Cardiomyopathy ORPHA:746
Systemic Capillary Leak Syndrome
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:188
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Arrhythmia, Hypertrophic cardiomyopathy OMIM:615471
Giant Cell Arteritis
Arrhythmia, Pericarditis, Epistaxis, Sudden cardiac death, Cerebral ischemia, Vasculitis ORPHA:397
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, Growth delay, Abnormal hypothalamus physiology, ... ORPHA:93924
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Aortic regurgitation, Truncus arteriosus, Short stature ORPHA:508498
Legionnaires Disease
Hypotension, Arrhythmia, Pericarditis, Myocarditis ORPHA:549
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Cardiomyopathy, Ventricular tachycardia ORPHA:159
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Jaw ... ORPHA:85443
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Angina pectoris, Mitral regurgitati... ORPHA:324
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Oculodentodigital Dysplasia
Arrhythmia, Umbilical hernia ORPHA:2710
Hennekam-Beemer Syndrome
Hypotension, Arrhythmia, Short stature, Telangiectasia of the skin ORPHA:2135
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Patent ductus arteriosus, Umbilical hernia ORPHA:1519
Ileal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100078
Jejunal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hypotension, Pulmonic ste... ORPHA:100077
Mucopolysaccharidosis Type 2
Arrhythmia, Growth delay, Umbilical hernia, Hypertension, Short stature, Communicating hydrocepha... ORPHA:580
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia OMIM:608836
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Cardiomyopathy ORPHA:228305
Mucopolysaccharidosis Type 2, Severe Form
Arrhythmia, Growth delay, Umbilical hernia, Hypertension, Heart murmur, Short stature, Cardiomyop... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Arrhythmia, Growth delay, Umbilical hernia, Hypertension, Heart murmur, Short stature, Cardiomyop... ORPHA:217093
Dominant Beta-Thalassemia
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231226
Duodenal Neuroendocrine Tumor
Cardiogenic shock, Palpitations, Arrhythmia, Right ventricular failure, Hematemesis, Hypotension,... ORPHA:100076
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature ORPHA:3220
Vater/Vacterl Association
Spina bifida, Patent ductus arteriosus, Postnatal growth retardation, Patent urachus, Intrauterin... OMIM:192350
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Hypotension, Arrhythmia, Gastrointestinal hemorrhage, Telangiectasia of the skin ORPHA:98292
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Short stature, Umbilical hernia ORPHA:800
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Postnatal growth re... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Postnatal growth re... ORPHA:363958
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Linear Skin Defects With Multiple Congenital Anomalies 1
Arrhythmia, Hydrocephalus, Short stature, Histiocytoid cardiomyopathy OMIM:309801
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Prolonged QT interval, Abnormal EKG ORPHA:480864
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Atrial fibrillation,... ORPHA:254892
Arrhythmia ORPHA:1267
Kleefstra Syndrome
Arrhythmia, Short stature ORPHA:261494
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... ORPHA:94093
Foodborne Botulism
Arrhythmia ORPHA:228371
Cockayne Syndrome B
Arrhythmia, Normal pressure hydrocephalus, Severe short stature, Postnatal growth retardation, Hy... OMIM:133540
Cockayne Syndrome A
Arrhythmia, Normal pressure hydrocephalus, Hypertension, Intrauterine growth retardation, Severe ... OMIM:216400
Beta-Thalassemia Major
Arrhythmia, Growth delay, Delayed puberty, High-output congestive heart failure, Dilated cardiomy... ORPHA:231214
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia OMIM:610131
Leber Optic Atrophy
Arrhythmia OMIM:535000
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Wiskott-Aldrich Syndrome
Arrhythmia, Internal hemorrhage, Hematemesis, Intracranial hemorrhage, Hematochezia, Epistaxis, S... ORPHA:906
Arrhythmia, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, M... ORPHA:221
Granulomatosis With Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Hypertension, ... ORPHA:900
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Carney Triad
Hypertension, Arrhythmia, Tachycardia, Gastrointestinal hemorrhage ORPHA:139411
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy ORPHA:85448
Spondylometaphyseal Dysplasia, Sedaghatian Type
Disproportionate short stature, Arrhythmia, Rhizomelic arm shortening, Atrioventricular block, My... ORPHA:93317
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Angina pectoris, Low-output congestive heart failure, Cardiomyopathy ORPHA:565612
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Schinzel-Giedion Syndrome
Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Umbilical hernia, Neural tube defect ORPHA:798
Split Cord Malformation
Cervical spina bifida, Hydromyelia, Meningocele, Lipomyelomeningocele, Myelomeningocele, Hydrocep... ORPHA:573278
Ulnar-Mammary Syndrome
Delayed puberty, Arrhythmia, Short stature ORPHA:3138
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Growth delay, Tricuspid regurgitation, Severe short stature, Dilated cardiomyopathy, ... ORPHA:2556
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Reduced ejection fraction, Arrhythmia, Cardiomyopathy ORPHA:258
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Simpson-Golabi-Behmel Syndrome, Type 1
Arrhythmia, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Hydrocephalus, Cardiom... OMIM:312870
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Spondyloarthropathy, Susceptibility To, 1
Arrhythmia, Aortic regurgitation OMIM:106300
Exstrophy-Epispadias Complex
Microcephaly, Spina bifida, Hydrocephalus ORPHA:322
Rubinstein-Taybi Syndrome 1
Arrhythmia, Growth delay, Patent ductus arteriosus, Postnatal growth retardation, Short stature, ... OMIM:180849
Amoebiasis Due To Free-Living Amoebae
Arrhythmia, Myocardial necrosis ORPHA:68
Costello Syndrome
Arrhythmia, Pulmonic stenosis, Short stature, Hydrocephalus, Hypertrophic cardiomyopathy OMIM:218040
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Noonan Syndrome
Arrhythmia, Short stature ORPHA:648
Familial Mediterranean Fever
Myocardial infarction, Arrhythmia, Pericarditis, Vasculitis ORPHA:342
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Umbilical hernia ORPHA:285
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, First de... ORPHA:509
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Arrhythmia, Disproportionate short stature, Myocarditis OMIM:250220
Proteasome-Associated Autoinflammatory Syndrome 1
Growth delay, Congestive heart failure, Short stature, Arrhythmia OMIM:256040
African Trypanosomiasis
Arrhythmia, Pericarditis, Congestive heart failure, Third degree atrioventricular block, Second d... ORPHA:3385
Kawasaki Disease
Arrhythmia, Pericarditis, Congestive heart failure, Myocarditis, Vasculitis ORPHA:2331
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Stickler Syndrome
Arrhythmia, Short stature ORPHA:828
Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, Heart block, Portal h... ORPHA:797
Hypotension, Arrhythmia, Tachycardia, Hematemesis ORPHA:707
Ulnar-Mammary Syndrome
Delayed puberty, Arrhythmia OMIM:181450


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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