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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
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
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature OMIM:618453
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Intrauterine growth retardation, Patent ductus arteriosus, Hypertension, Arrhythmia OMIM:617021
Schisis Association
Encephalocele, Spina bifida, Anencephaly ORPHA:63862
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy OMIM:207950
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Coronary Arterial Fistula
Angina pectoris, Abnormal left ventricular function, Aortic valve stenosis, Systolic heart murmur... ORPHA:2041
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Cervical spina bifida, Growth delay OMIM:600122
Scapuloperoneal Myopathy, X-Linked Dominant
Arrhythmia OMIM:300695
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta ORPHA:230839
Dystonia 23
Arrhythmia OMIM:614860
Tako-Tsubo Cardiomyopathy
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... ORPHA:66529
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Camptodactyly Syndrome, Guadalajara Type 1
Spina bifida, Intrauterine growth retardation, Short stature ORPHA:1327
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Neu-Laxova Syndrome 2
Polyhydramnios, Spina bifida, Intrauterine growth retardation, Edema OMIM:616038
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus, Tricuspid regurgitation ORPHA:1120
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:1345
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Eosinophilia, Palpitatio... ORPHA:75566
Fountain Syndrome
Spina bifida, Facial edema, Spina bifida occulta, Short stature ORPHA:3219
Posterior Meningocele
Occipital meningocele, Hydrocephalus, Neural tube defect, Meningocele, Lipomyelomeningocele, Hydr... ORPHA:268810
Sick Sinus Syndrome 2
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... OMIM:163800
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... OMIM:616249
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Iniencephaly
Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Polyhydramnios, Spinal dysraphis... ORPHA:63259
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, Dilated cardiomyopathy, Arrhythmia OMIM:181350
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Bundle branch block, Supraventricular tachycardia, Abnormal left ven... ORPHA:99103
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Attrv122I Amyloidosis
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... ORPHA:85451
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, ST segment elevation, T-wave inversion, Ventricular tachycardia, Right ... ORPHA:263297
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation ORPHA:90647
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Czeizel-Losonci Syndrome
Myelomeningocele, Hydrocephalus, Spina bifida, Spina bifida occulta ORPHA:2437
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:602390
Cerebrocostomandibular Syndrome
Myelomeningocele, Short stature, Hydranencephaly, Meningocele, Spina bifida, Intrauterine growth ... ORPHA:1393
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Arrhythmia OMIM:614702
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature ORPHA:2928
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Arrhinencephaly, Polyhydramnios, Spina bifida, Intrauterine g... ORPHA:3412
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Pelvis-Shoulder Dysplasia
Hydrocephalus, Short stature, Neonatal short-trunk short stature, Mesomelic/rhizomelic limb short... ORPHA:2839
Waardenburg Syndrome Type 1
Spina bifida, Meningocele ORPHA:894
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Neonatal Lupus Erythematosus
Hydrocephalus, Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Dilated cardiomy... ORPHA:398124
Naxos Disease
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Sudde... OMIM:601214
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Ebstein Malformation Of The Tricuspid Valve
Sudden cardiac death, Arrhythmia, Cerebral ischemia, Patent ductus arteriosus, Right bundle branc... ORPHA:1880
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Arrhythmia, Neonatal death, Umbilical hernia, Growth delay, Hypertrophic cardiomyopathy, Intraute... OMIM:614052
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Short stature, Pulmonic stenosis, Arrhythmia ORPHA:228410
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Growth delay, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Congestiv... ORPHA:1194
Mosaic Trisomy 9
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Oligohydramnios, Intrauterine growth r... ORPHA:99776
Salih Myopathy
Dilated cardiomyopathy, Arrhythmia OMIM:611705
Cardiac Diverticulum
Angina pectoris, Mitral stenosis, Aortic valve stenosis, Premature ventricular contraction, Tricu... ORPHA:1686
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Short stature, Pulmonic stenosis, Arrhythmia, Spina bifida occulta, Myocardi... ORPHA:500
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Pagod Syndrome
Short stature, Sudden cardiac death, Arrhythmia, Meningocele, Encephalocele, Spina bifida ORPHA:991
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Arrhythmia ORPHA:99745
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Right ventricular cardiomyopa... ORPHA:216694
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Abnormal left ventricular function, Arrhythmia OMIM:618098
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
Congenital Hypothyroidism
Short stature, Arrhythmia, Hypotension, Umbilical hernia, Hypertension ORPHA:442
Thrombotic Thrombocytopenic Purpura
Myocardial infarction, Arrhythmia ORPHA:54057
Trisomy 18
Holoprosencephaly, Short stature, Anencephaly, Growth delay, Oligohydramnios, Intrauterine growth... ORPHA:3380
Cirrhotic Cardiomyopathy
Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary artery pressure, Ar... ORPHA:57777
Dk1-Cdg
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Short stature ORPHA:91131
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Arrhythmia OMIM:615084
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Cardiomyopathy, Short stature OMIM:249270
Polymyositis
Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atrioventricular conduction, Dilated card... ORPHA:732
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Arrhythmia, Cerebral ischemia ORPHA:60040
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Short stature, Mitral regurgitation, Arrhythmia, Patent ductus arteriosus,... ORPHA:363705
Hec Syndrome
Arrhythmia, Cardiomyopathy, Communicating hydrocephalus ORPHA:2119
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia ORPHA:542306
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Neu-Laxova Syndrome 1
Intrauterine growth retardation, Short umbilical cord, Hydranencephaly, Small placenta, Polyhydra... OMIM:256520
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Infantile Refsum Disease
Arrhythmia, Cardiomyopathy, Short stature ORPHA:772
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Arrhythmia ORPHA:352447
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature OMIM:600430
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature ORPHA:3191
Fabry Disease
Angina pectoris, Arrhythmia, Myocardial infarction, Delayed puberty, Hypertension, Transient isch... OMIM:301500
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:156
Noonan Syndrome 5
Pulmonic stenosis, Hypertrophic cardiomyopathy, Arrhythmia, Short stature OMIM:611553
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
Neu-Laxova Syndrome
Polyhydramnios, Spina bifida, Intrauterine growth retardation ORPHA:2671
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Abnormal left ventricular function, Arrhythmia, Heart murmur, Hyp... ORPHA:437572
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated cardiomyopathy, Hypertro... OMIM:300257
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Reduced left ventricular ejection fraction, Heart block, Ca... ORPHA:542323
Focal Dermal Hypoplasia
Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Umbilical hernia ORPHA:2092
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Dilated car... OMIM:302060
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:235200
19P13.12 Microdeletion Syndrome
Mitral regurgitation, Aortic regurgitation, Intrauterine growth retardation, Arrhythmia ORPHA:254346
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature ORPHA:3201
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachycardia, Arrhythmia, Dilated cardiomyopathy, Ventricular tachycardia, Ventricular fibrillatio... ORPHA:26793
Limb Body Wall Complex
Myelomeningocele, Hydrocephalus, Short umbilical cord, Anencephaly, Spina bifida occulta, Encepha... ORPHA:2369
American Trypanosomiasis
Arrhythmia, Cardiomyopathy, Myocarditis, Congestive heart failure ORPHA:3386
Nail-Patella Syndrome
Spina bifida, Short stature OMIM:161200
Hallermann-Streiff Syndrome
Pulmonary arterial hypertension, Proportionate short stature, Telangiectasia, Spina bifida, Hyper... OMIM:234100
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature ORPHA:2238
Kniest-Like Dysplasia, Lethal
Rhizomelia, Patent ductus arteriosus, Arrhythmia, Lethal short-limbed short stature OMIM:245190
22Q11.2 Deletion Syndrome
Hydrocephalus, Short stature, Corneal neovascularization, Arrhinencephaly, Truncus arteriosus, Hy... ORPHA:567
Kearns-Sayre Syndrome
Third degree atrioventricular block, Arrhythmia, Cardiomyopathy, Short stature OMIM:530000
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Ogden Syndrome
Postnatal growth retardation, Arrhythmia, Cardiogenic shock ORPHA:276432
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia ORPHA:42
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Tricuspid regurgitation, Arrhythmia, Short stature ORPHA:261211
Neurofibromatosis, Type I
Hydrocephalus, Aqueductal stenosis, Short stature, Hypertension, Spina bifida OMIM:162200
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Rheumatic Fever
Epistaxis, Pericarditis, Arrhythmia, Myocarditis ORPHA:3099
Fibular Hemimelia
Spina bifida ORPHA:93323
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Arrhythmia, Hypovolemic shock ORPHA:171876
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Arrhythmia ORPHA:57
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia OMIM:153400
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Arrhythmia, Spinal dysraphism, Branchial anomaly, Encephalocele ORPHA:2162
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Portal hypertension, Cardiomyopathy, Congestive heart failure, Elevated jugular venou... ORPHA:465508
Carnitine Palmitoyltransferase Ii Deficiency
Hydrocephalus, Arrhythmia, Cardiomyopathy, Renal tubular epithelial necrosis ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Fanconi Anemia
Hydrocephalus, Short stature, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Umbilical he... ORPHA:84
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia OMIM:619184
Basal Cell Nevus Syndrome
Hydrocephalus, Spina bifida OMIM:109400
Microscopic Polyangiitis
Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart fa... ORPHA:727
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Arrhythmia ORPHA:33001
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia OMIM:255120
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Spina bifida, Truncus arteriosus, Short stature ORPHA:508498
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Arrhythmia, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy ORPHA:228308
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Supraventricular tachycardia, Postnatal growth... OMIM:300855
Systemic Capillary Leak Syndrome
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:188
Al Amyloidosis
Abnormal P wave, Jaw claudication, Arrhythmia, Abnormal EKG, Postural hypotension with compensato... ORPHA:85443
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Short stature, Edema of the dorsum of hands, Patent ductus arteriosu... OMIM:274000
Jacobsen Syndrome
Aortic valve stenosis, Short stature, Growth delay, Spina bifida, Intrauterine growth retardation ORPHA:2308
Giant Cell Arteritis
Sudden cardiac death, Arrhythmia, Vasculitis, Cerebral ischemia, Pericarditis, Epistaxis ORPHA:397
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Arrhyt... ORPHA:93672
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:746
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Legionnaires Disease
Hypotension, Pericarditis, Arrhythmia, Myocarditis ORPHA:549
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Tachycardia, Arrhy... ORPHA:466677
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Short ... ORPHA:324
Oculodentodigital Dysplasia
Arrhythmia, Umbilical hernia ORPHA:2710
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:609015
Mgat2-Cdg
Reflex asystolic syncope, Patent ductus arteriosus, Arrhythmia ORPHA:79329
Vater/Vacterl Association
Occipital encephalocele, Patent ductus arteriosus, Postnatal growth retardation, Spina bifida, In... OMIM:192350
Campomelic Dysplasia
Hydrocephalus, Neonatal short-limb short stature, Disproportionate short-limb short stature, Poly... OMIM:114290
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitations, Arrhythmia, Cardi... ORPHA:100077
Colchicine Poisoning
Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive heart failure ORPHA:31824
Hydrops Fetalis
Arrhythmia, Capillary leak ORPHA:1041
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Patent ductus arteriosus OMIM:619480
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Arrhythmia, Hypotension, Short stature ORPHA:2135
Mucopolysaccharidosis Type 2
Short stature, Hypertension, Arrhythmia, Communicating hydrocephalus, Umbilical hernia, Growth de... ORPHA:580
Specc1L-Related Hypertelorism Syndrome
Arrhythmia, Patent ductus arteriosus, Umbilical hernia ORPHA:1519
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Cardiomyopathy ORPHA:228305
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Arrhythmia OMIM:608836
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Duodenal Neuroendocrine Tumor
Melena, Hematemesis, Tricuspid stenosis, Pulmonic stenosis, Right ventricular failure, Palpitatio... ORPHA:100076
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Mucopolysaccharidosis Type 2, Severe Form
Short stature, Hypertension, Arrhythmia, Heart murmur, Umbilical hernia, Growth delay, Cardiomyop... ORPHA:217085
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Hematemesis, Recurrent intrapulmonary hemorrhage, Sudden cardiac ... ORPHA:906
Mucopolysaccharidosis Type 2, Attenuated Form
Short stature, Hypertension, Arrhythmia, Heart murmur, Umbilical hernia, Growth delay, Cardiomyop... ORPHA:217093
Dominant Beta-Thalassemia
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Delayed puberty, Growth... ORPHA:231226
Mastocytosis
Telangiectasia of the skin, Gastrointestinal hemorrhage, Arrhythmia, Hypotension ORPHA:98292
Autosomal Dominant Progressive External Ophthalmoplegia
Palpitations, Arrhythmia, Ventricular arrhythmia, Reduced left ventricular ejection fraction, Dil... ORPHA:254892
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Postnatal growth retardation, Spin... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Pulmonic stenosis, Intraventricular hemorrhage, Postnatal growth retardation, Spin... ORPHA:363958
Botulism
Arrhythmia ORPHA:1267
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia ORPHA:480864
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Short stature, Junctional ectopic tachycardia, Arrhythmia, Histiocytoid cardiomyop... OMIM:309801
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature ORPHA:3220
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Umbilical hernia, Short stature ORPHA:800
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Brad... ORPHA:94093
Foodborne Botulism
Arrhythmia ORPHA:228371
Kleefstra Syndrome
Arrhythmia, Short stature ORPHA:261494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia OMIM:610131
Split Cord Malformation
Myelomeningocele, Hydrocephalus, Cervical spina bifida, Meningocele, Lipomyelomeningocele, Hydrom... ORPHA:573278
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Rubinstein-Taybi Syndrome 1
Growth delay, Short stature, Spina bifida occulta, Polyhydramnios, Patent ductus arteriosus, Post... OMIM:180849
Localized Scleroderma
Arrhythmia, Vasculitis, Raynaud phenomenon ORPHA:90289
Beta-Thalassemia Major
High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Delayed puberty, Growth... ORPHA:231214
Cockayne Syndrome B
Severe short stature, Normal pressure hydrocephalus, Arrhythmia, Postnatal growth retardation, In... OMIM:133540
Leber Optic Atrophy
Arrhythmia OMIM:535000
Cockayne Syndrome A
Normal pressure hydrocephalus, Short stature, Severe postnatal growth retardation, Arrhythmia, Hy... OMIM:216400
African Trypanosomiasis
Myelopathy, Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atriovent... ORPHA:3385
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Dermatomyositis
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... ORPHA:221
Granulomatosis With Polyangiitis
Angina pectoris, Recurrent intrapulmonary hemorrhage, Arrhythmia, Vasculitis, Cerebral ischemia, ... ORPHA:900
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia ORPHA:2131
Ivic Syndrome
Severe short stature, Arrhythmia ORPHA:2307
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Palpitations, Arrhythmia, Low-output congestive heart failure, Cardiomyopathy ORPHA:565612
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Cardiomyopathy ORPHA:85448
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Arrhythmia, Hypertension ORPHA:139411
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pulmonary arterial hypertension, Reduced left ventricular ejection fraction, Arrhythmia, Cardiomy... ORPHA:258
Spondylometaphyseal Dysplasia, Sedaghatian Type
Arrhythmia, Rhizomelic arm shortening, Myocarditis, Disproportionate short stature, Atrioventricu... ORPHA:93317
Microphthalmia With Linear Skin Defects Syndrome
Hydrocephalus, Severe short stature, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia, D... ORPHA:2556
Ulnar-Mammary Syndrome
Arrhythmia, Delayed puberty, Short stature ORPHA:3138
Von Hippel-Lindau Disease
Abnormal left ventricular function, Palpitations, Arrhythmia, Myocarditis, Myocardial infarction,... ORPHA:892
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Costello Syndrome
Hydrocephalus, Short stature, Pulmonic stenosis, Arrhythmia, Hypertrophic cardiomyopathy OMIM:218040
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia ORPHA:68
Familial Mediterranean Fever
Myocardial infarction, Pericarditis, Arrhythmia, Vasculitis ORPHA:342
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Pulmonic stenosis, Arrhythmia, Patent ductus arteriosus, Umbilical hernia, Cardiom... OMIM:312870
Oculodentodigital Dysplasia
Arrhythmia OMIM:164200
Noonan Syndrome
Arrhythmia, Short stature ORPHA:648
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Umbilical hernia ORPHA:285
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Subconjunctival hemorrhage, Pe... ORPHA:509
Kawasaki Disease
Arrhythmia, Vasculitis, Myocarditis, Pericarditis, Congestive heart failure ORPHA:2331
Proteasome-Associated Autoinflammatory Syndrome 1
Growth delay, Arrhythmia, Congestive heart failure, Short stature OMIM:256040
Spondylometaphyseal Dysplasia, Sedaghatian Type
Arrhythmia, Rhizomelia, Disproportionate short stature, Myocarditis OMIM:250220
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746
Sarcoidosis
Eosinophilia, Arrhythmia, Ventricular tachycardia, Portal hypertension, Heart block, Abnormal car... ORPHA:797
Stickler Syndrome
Arrhythmia, Short stature ORPHA:828
Plague
Tachycardia, Arrhythmia, Hematemesis, 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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