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
Pdnp2,  PD-Ialpha,  Npps2,  ATX,  Autotaxin

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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida 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
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Nathalie Syndrome
Short stature, Arrhythmia ORPHA:2663
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Arrhythmia OMIM:618453
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:616198
Meckel Syndrome, Type 2
Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele OMIM:603194
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Wildervanck Syndrome
Meningocele ORPHA:3456
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Humero-Radial Synostosis
Meningocele ORPHA:3265
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Isolated Posterior Meningocele
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... ORPHA:268810
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Myelomeningocele ORPHA:66637
Intrauterine growth retardation, Hydrocephalus, Polyhydramnios, Meningocele, Holoprosencephaly ORPHA:3376
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Dystonia 23
Arrhythmia OMIM:614860
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Gastrointestinal hemorrhage, Arrhythmia ORPHA:230839
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Neu-Laxova Syndrome 2
Polyhydramnios, Intrauterine growth retardation, Spina bifida, Edema OMIM:616038
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Intrauterine growth retardation, Spina bifida ORPHA:1327
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Patent ductus arteriosus, Spina bifida ORPHA:1120
Sirenomelia, Spina bifida ORPHA:3169
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... OMIM:540000
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Fountain Syndrome
Facial edema, Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Sacral Defect With Anterior Meningocele
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Poly... ORPHA:63259
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningocele ORPHA:2311
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Joubert Syndrome 14
Encephalocele, Hypertension, Hydrocephalus, Meningocele, Intracranial hemorrhage, Growth delay OMIM:614424
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Short stature, Spina bifida occulta, Pulmoni... OMIM:617877
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Neurocutaneous Melanocytosis
Meningocele, Intracranial hemorrhage ORPHA:2481
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus ORPHA:2437
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Cardiomyopathy, Neural tube defect ORPHA:79321
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ... ORPHA:1393
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Vacterl With Hydrocephalus
Intrauterine growth retardation, Spina bifida, Hydrocephalus, Polyhydramnios, Aqueductal stenosis ORPHA:3412
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node ori... ORPHA:398124
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Arrhythmia ORPHA:2928
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Short stature, Pulmonic stenosis ORPHA:228410
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Arrhythmia, Spina bifida ORPHA:2874
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death, H... OMIM:614052
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Short stature, Meningocele, Patent ductus arteriosus OMIM:130720
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Cardiac Diverticulum
Aortic valve stenosis, Umbilical hernia, Congestive heart failure, Abnormal EKG, Palpitations, Mi... ORPHA:1686
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Mosaic Trisomy 9
Intrauterine growth retardation, Oligohydramnios, Spina bifida, Polyhydramnios, Hydrops fetalis, ... ORPHA:99776
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Arrhythmi... ORPHA:1194
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Patent ductus arteriosus, Heart block, Aortic regurgitation, Third degree atrioventri... ORPHA:216694
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Intrauterine growth retardation, Arrhythmia, Sh... ORPHA:500
Pagod Syndrome
Encephalocele, Arrhythmia, Spina bifida, Short stature, Meningocele, Sudden cardiac death ORPHA:991
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Oligohydramnios, Spina bifida, Umbilical hernia OMIM:613776
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitations, Left-to-... ORPHA:99104
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Growth delay ORPHA:168593
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis ORPHA:99745
Short stature, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure ORPHA:91131
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Polyhydramnios, Hydrops fetalis, Anencephaly OMIM:616546
Trisomy 18
Growth delay, Intrauterine growth retardation, Oligohydramnios, Spina bifida, Short stature, Holo... ORPHA:3380
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Arrhythmia, Cardiomyopathy OMIM:249270
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia ORPHA:2119
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Phocomelia, Schinzel Type
Disproportionate short stature, Intrauterine growth retardation, Hydrops fetalis, Meningocele ORPHA:2879
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Hydrocephalus ORPHA:60040
Isolated Atp Synthase Deficiency
Short stature, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Mitral regurgitatio... ORPHA:363705
Infantile Refsum Disease
Short stature, Arrhythmia, Cardiomyopathy ORPHA:772
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Chromosome 2Q37 Deletion Syndrome
Short stature, Arrhythmia OMIM:600430
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Neu-Laxova Syndrome
Polyhydramnios, Intrauterine growth retardation, Spina bifida ORPHA:2671
Noonan Syndrome 5
Short stature, Arrhythmia, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Subaortic Stenosis-Short Stature Syndrome
Short stature, Arrhythmia ORPHA:3191
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Focal Dermal Hypoplasia
Patent ductus arteriosus, Telangiectasia of the skin, Spina bifida, Umbilical hernia ORPHA:2092
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Delayed puberty... OMIM:301500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Capillary leak,... ORPHA:542323
Intrauterine growth retardation, Meningocele ORPHA:46059
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Arrhythmia ORPHA:254346
Neu-Laxova Syndrome 1
Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili... OMIM:256520
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Spina bifida ... ORPHA:2369
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:235200
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Men... ORPHA:397715
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Hallermann-Streiff Syndrome
Proportionate short stature, Telangiectasia, Pulmonary arterial hypertension, Spina bifida, Hyper... OMIM:234100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Arrhythmia, Ventricular tachycardia, Prolonged QT... ORPHA:26793
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Arrhythmia ORPHA:3201
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:3386
Ogden Syndrome
Postnatal growth retardation, Arrhythmia, Cardiogenic shock ORPHA:276432
Familial Isolated Hypoparathyroidism
Short stature, Arrhythmia ORPHA:2238
Kearns-Sayre Syndrome
Short stature, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
16P11.2P12.2 Microdeletion Syndrome
Short stature, Tricuspid regurgitation, Intrauterine growth retardation, Arrhythmia ORPHA:261211
Neurofibromatosis, Type I
Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis, Hypertension OMIM:162200
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Proportionate short stature ORPHA:171876
Fibular Hemimelia
Spina bifida ORPHA:93323
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Growth delay ORPHA:57
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Umbilical hernia, Intrauterine growth retardati... ORPHA:567
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Spina bifida, Hyd... ORPHA:84
Vater/Vacterl Association
Occipital encephalocele, Postnatal growth retardation, Intrauterine growth retardation, Spina bif... OMIM:192350
Rheumatic Fever
Myocarditis, Epistaxis, Arrhythmia, Pericarditis ORPHA:3099
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Aortic regurgitation, Spina bifida, Truncus arteriosus ORPHA:508498
Spinal dysraphism, Branchial anomaly, Encephalocele, Arrhythmia, Hydrocephalus, Holoprosencephaly ORPHA:2162
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia OMIM:619184
Ogden Syndrome
Umbilical hernia, Torsade de pointes, Postnatal growth retardation, Intrauterine growth retardati... OMIM:300855
Lymphedema-Distichiasis Syndrome
Arrhythmia, Patent ductus arteriosus ORPHA:33001
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Neonatal death, Pulmonary arterial hypertension, Spina bifida, Bradycard... OMIM:614437
Giant Cell Arteritis
Vasculitis, Epistaxis, Cerebral ischemia, Arrhythmia, Sudden cardiac death, Pericarditis ORPHA:397
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... ORPHA:465508
Jacobsen Syndrome
Aortic valve stenosis, Intrauterine growth retardation, Spina bifida, Short stature, Growth delay ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of hands, Spina bifida, Edema of the dorsum of feet, Short stature, Patent du... OMIM:274000
Singleton-Merten Syndrome 2
Short stature, Aortic valve stenosis, Arrhythmia OMIM:616298
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia ORPHA:746
Legionnaires Disease
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:549
Oculodentodigital Dysplasia
Arrhythmia, Umbilical hernia ORPHA:2710
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Growth delay OMIM:615471
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele OMIM:277170
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Hydrocephalus, Cardiomyopathy ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Hydrocephalus, Cardiomyopathy, Heart block ORPHA:228308
Arrhythmia, Patent ductus arteriosus, Reflex asystolic syncope ORPHA:79329
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Spina bifida OMIM:619480
Hennekam-Beemer Syndrome
Short stature, Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Marfan Syndrome
Aortic regurgitation, Abnormal left ventricular function, Congestive heart failure, Mitral regurg... ORPHA:558
Mucopolysaccharidosis Type 2
Cardiomyopathy, Umbilical hernia, Hypertension, Arrhythmia, Short stature, Communicating hydrocep... ORPHA:580
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Cardiomyopathy ORPHA:228305
Arima Syndrome
Hypertension, Occipital meningocele, Growth delay OMIM:243910
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Patent ductus arteriosus, Umbilical hernia ORPHA:1519
Femoral-Facial Syndrome
Encephalocele, Truncus arteriosus, Spina bifida, Short stature, Patent ductus arteriosus, Pulmoni... OMIM:134780
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Hypertension, Arrhythmia, Short stature, Heart murmur, Growth d... ORPHA:217085
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Postnatal growth retardation, Intraventricular hemorrhage, Hydrocephalus, Spina b... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Postnatal growth retardation, Intraventricular hemorrhage, Hydrocephalus, Spina b... ORPHA:363958
Dominant Beta-Thalassemia
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Delayed puberty, Growth... ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage OMIM:608836
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Abnormal eosinophil morphology, Recurrent intrapulmonary hem... ORPHA:906
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG ORPHA:480864
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Hypertension, Arrhythmia, Short stature, Heart murmur, Growth d... ORPHA:217093
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Arrhythmia, Hydrocephalus, Short sta... OMIM:309801
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Arrhythmia, Ven... ORPHA:254892
Kleefstra Syndrome
Short stature, Arrhythmia ORPHA:261494
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Short stature, Arrhythmia ORPHA:3220
Schwartz-Jampel Syndrome
Short stature, Arrhythmia, Pulmonary arterial hypertension, Umbilical hernia ORPHA:800
Arrhythmia ORPHA:1267
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Foodborne Botulism
Arrhythmia ORPHA:228371
Leber Optic Atrophy
Arrhythmia OMIM:535000
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Lymphedema-Distichiasis Syndrome
Arrhythmia, Patent ductus arteriosus OMIM:153400
Rubinstein-Taybi Syndrome 1
Growth delay, Postnatal growth retardation, Spina bifida, Polyhydramnios, Spina bifida occulta, S... OMIM:180849
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Postnatal growth retardation, Delayed menarche, Arrhyt... ORPHA:648
Beta-Thalassemia Major
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Delayed puberty, Growth... ORPHA:231214
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia, ... OMIM:133540
Cockayne Syndrome A
Intrauterine growth retardation, Severe postnatal growth retardation, Arrhythmia, Short stature, ... OMIM:216400
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele OMIM:610829
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Alternating Hemiplegia Of Childhood
Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave ORPHA:2131
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy ORPHA:85448
African Trypanosomiasis
Myelopathy, Third degree atrioventricular block, Second degree atrioventricular block, Congestive... ORPHA:3385
Ivic Syndrome
Severe short stature, Arrhythmia ORPHA:2307
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypertension, Cardiomy... ORPHA:258
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Palpitations, Angina pectoris, Arrhythmia, Low-output congestive heart failure ORPHA:565612
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Postnatal growth retardation, Spina bifida, Hydrocephalus, Stillbirth, Short st... OMIM:304120
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... ORPHA:2556
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Arrhythmia, My... ORPHA:93317
Ulnar-Mammary Syndrome
Short stature, Arrhythmia, Delayed puberty ORPHA:3138
Von Hippel-Lindau Disease
Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular function, Hypert... ORPHA:892
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Vasculitis, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Pulmonary arterial hyp... ORPHA:221
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Costello Syndrome
Hypertrophic cardiomyopathy, Arrhythmia, Hydrocephalus, Short stature, Pulmonic stenosis OMIM:218040
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Umbilical hernia, Arrhythmia, Hydrocephalus, Patent ductus arteriosus, Pulmonic s... OMIM:312870
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Familial Mediterranean Fever
Vasculitis, Arrhythmia, Myocardial infarction, Pericarditis ORPHA:342
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Arrhythmia, Raynaud phenomenon, Umbilical hernia ORPHA:285
Amoebiasis Due To Free-Living Amoebae
Arrhythmia ORPHA:68
Kawasaki Disease
Vasculitis, Congestive heart failure, Arrhythmia, Myocarditis, Pericarditis ORPHA:2331
Hypotension, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Retinal hemor... ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Short stature, Arrhythmia, Growth delay, Congestive heart failure OMIM:256040
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Rhizomelia, Disproportionate short stature, Arrhythmia OMIM:250220
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Stickler Syndrome
Short stature, Arrhythmia ORPHA:828
Hypotension, Tachycardia, Arrhythmia, Hematemesis ORPHA:707
Ulnar-Mammary Syndrome
Arrhythmia, Delayed puberty 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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