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Gene: Gpbp1 MGI:1920524

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Gene Summary

Name:
GC-rich promoter binding protein 1
Synonyms:
1700034P14Rik,  D230035M11Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
shortened PQ interval Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 3.03×10-05
increased circulating bilirubin level Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 1.15×10-05
preweaning lethality, complete penetrance Gpbp1tm1b(EUCOMM)Wtsi HOM   Early adult 0.000134
abnormal seminal vesicle morphology Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 0.00
improved glucose tolerance Gpbp1tm1b(EUCOMM)Wtsi HET   Early adult 7.19×10-06
abnormal gait Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 2.61×10-06
shortened PR interval Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 4.99×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Electrocardiogram (ECG)

Waveform Image

38 Images

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Human diseases caused by Gpbp1 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 Gpbp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... ORPHA:45452
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In... OMIM:610947
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Malaria
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration ORPHA:673
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... ORPHA:137675
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micr... ORPHA:3363
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... ORPHA:79102
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... OMIM:310300
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:620010
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Nathalie Syndrome
Abnormal EKG OMIM:255990
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Unsteady gait, Shortened PR interval, Hypertension OMIM:614947
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, S... ORPHA:308552
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomy... ORPHA:1177
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Elevated circulating creatine kinase concentration, Inability to walk,... ORPHA:365
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Biliary Atresia, Extrahepatic
Atretic gallbladder, Bile duct proliferation, Unconjugated hyperbilirubinemia, Hyperbilirubinemia... OMIM:210500
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacit... OMIM:616278
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Hijazi-Reis Syndrome
Gait disturbance, Hyperbilirubinemia OMIM:301094
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Increased total bilirubin ORPHA:90037
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart... OMIM:310200
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Limb dysmetria ORPHA:94125
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Decreased HDL cholesterol concentration, Hypertyrosinemia, Abnormal ... ORPHA:247598
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... ORPHA:263297
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... OMIM:609734
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure OMIM:269920
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hype... OMIM:229300
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Posterior pituitary hypoplasia, Hyperbilirubinemia, Ne... OMIM:613986
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Bradycardia, Goiter ORPHA:95716
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... OMIM:616860
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbi... ORPHA:348
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Hypoalbu... OMIM:617156
Bachmann-Bupp Syndrome
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia OMIM:619075
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperbilirubinemia, Hyperglycemia, Annular pancreas, Pancr... OMIM:615710
Peripartum Cardiomyopathy
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... ORPHA:563
Hypermanganesemia With Dystonia 1
Steppage gait, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbiliru... OMIM:613280
Wolcott-Rallison Syndrome
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... ORPHA:1667
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hyperbilirubinemia ORPHA:713
Relapsing Fever
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated circulati... ORPHA:91547
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia, Cholelithiasis OMIM:605479
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru... OMIM:619662
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia ORPHA:73272
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Cholelithiasis, Epistaxis OMIM:211600
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Goiter ORPHA:95715
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:617049
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Dilate... OMIM:608836
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Ataxia, Hyperammonem... ORPHA:3008
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,... OMIM:227810
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormality of the male genitalia, Cholelithiasis, Elevated circulating long chain fatty acid con... OMIM:614886
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Hypocalcemia, Prominent U wave, Abnormal T-wave, Raynaud ... ORPHA:358
Glycogen Storage Disease Vii
Cholelithiasis, Elevated circulating creatine kinase concentration, Hyperuricemia, Increased tota... OMIM:232800
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Congestive heart failure, Decr... ORPHA:14
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Tip-toe gait, Epistaxis ORPHA:293939
Mirizzi Syndrome
Tachycardia, Cholesterol gallstones, Hyperbilirubinemia, Cholelithiasis, Abnormal ductus choledoc... ORPHA:521219
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Micropenis, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hypertrophic cardio... OMIM:613673
Harderoporphyria
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat... ORPHA:230
Hereditary Spherocytosis
Cholelithiasis, Ataxia, Hyperbilirubinemia, Restrictive cardiomyopathy ORPHA:822
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hyperbilirubinemia, Hypoalbuminemia, Portal hypertension ORPHA:64743
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia ORPHA:79302
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Hypoalbu... OMIM:251880
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra... ORPHA:480864
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Inability to walk, Right bundle... ORPHA:268
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Pulmonary venous hypertension, Cholelithiasis, Abno... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Bile duct proliferation, Hyperbilirubinemia OMIM:613812
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Bradycardia, Macroorchidism, Hypercholeste... ORPHA:90674
Hypothyroidism Due To Tsh Receptor Mutations
Thyroid hypoplasia, Increased circulating thyroglobulin level, Bradycardia, Neonatal hyperbilirub... ORPHA:90673
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
Rh Deficiency Syndrome
Tachycardia, Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Rett Syndrome
Gait apraxia, Gait ataxia, Truncal ataxia, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Glycosuria OMIM:613404
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... ORPHA:231625
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb... OMIM:603553
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Abnormal pineal melatonin secretion, Hyperbilirubinemia ORPHA:69665
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Sickle Cell Anemia
Pigment gallstones, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Tricuspid regurgitation, Hypospadias, Conjugated hyperbilirubinemia, Crypto... OMIM:614866
Woodhouse-Sakati Syndrome
Diabetes mellitus, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of t... OMIM:241080
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced haptoglobin level, Unconjugated hyperbilirubinemia OMIM:266200
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia OMIM:617093
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Bradycardia, Ectopic thyroid, Hyperbilirubinemia, Thyr... OMIM:218700
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Heart murmur, Intracranial hemorrhage, Hypocalce... ORPHA:163979
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Cystic Echinococcosis
Ovarian cyst, Hyperbilirubinemia, Abnormality of the testis size ORPHA:400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia OMIM:608885
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... ORPHA:85443
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... ORPHA:860
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Supraventricular ta... ORPHA:273
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Increased total bilirubin ORPHA:2137
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyper... OMIM:229600
Parenteral Nutrition-Associated Cholestasis
Portal hypertension, Biliary hyperplasia, Conjugated hyperbilirubinemia, Abnormal circulating fat... ORPHA:567983
Ogden Syndrome
Maternal diabetes, Cryptorchidism, Ventricular tachycardia, Premature ventricular contraction, Hy... OMIM:300855
Yellow Fever
Shock, Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Hematemes... ORPHA:99829
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Wilson Disease
Hypoparathyroidism, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbumine... OMIM:277900
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Glycogen Storage Disease Xii
Cholelithiasis, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hy... OMIM:611881
Caroli Syndrome
Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis, Melena, Hyperbilirubinemia, Abno... ORPHA:480520
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Aortic regurgitation, Broad-based gait, Hypospadias, Ataxia, Congestive heart fail... OMIM:619475
Reynolds Syndrome
Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiec... OMIM:613471
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Congenital Sialidosis Type 2
Abnormal EKG, Ataxia, Dysmetria, Telangiectasia ORPHA:93400
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abn... ORPHA:186
Lathosterolosis
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Ambiguous genitalia, male, ... OMIM:607330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... ORPHA:90038
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Pancreatic fibrosis, Hyperbilirubinemia OMIM:557000
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ataxia, Cardiac ... ORPHA:466677
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Dextrocardia
Abnormal reproductive system morphology, Abnormal EKG, Pancreatic hypoplasia, T-wave inversion ORPHA:1666
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia OMIM:259720
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Hypospadias, Cryptorchidism, Pulmonary arterial hypertension, Micropenis, Neonat... ORPHA:163956
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia OMIM:300908
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic cysts, Bile duct proliferation, Pu... OMIM:208500
Caroli Disease
Conjugated hyperbilirubinemia, Cholelithiasis, Abnormal circulating alpha-fetoprotein concentrati... ORPHA:53035
Liver Disease, Severe Congenital
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... OMIM:619991
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ... ORPHA:70591
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Friedreich Ataxia 2
Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ... OMIM:601992
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Ataxia ORPHA:168577
Degcags Syndrome
Tachycardia, Hypospadias, Cryptorchidism, Chordee, Pulmonic stenosis, Hyperbilirubinemia, Ambiguo... OMIM:619488
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Hypoglycemia, Portal hypertension, Bile duct proliferation, Hypocalcemia, Hypoalbu... OMIM:613658
Isolated Biliary Atresia
Atretic gallbladder, Hypopituitarism, Bile duct proliferation, Conjugated hyperbilirubinemia ORPHA:30391
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Decreased serum iron, Increased blood urea nitrogen, H... ORPHA:447
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Cranioectodermal Dysplasia 2
Hypertension, Bile duct proliferation, Hyperbilirubinemia OMIM:613610
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormal ductus choledochus morphology, Hyperbilirubinemia ORPHA:562639
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, ... ORPHA:466650
Hardikar Syndrome
Portal hypertension, Hematemesis, Hypertension, Bile duct proliferation, Hyperbilirubinemia OMIM:301068
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Cryptorchidism, Ectopic posterior pituitary, Recurrent hypoglycemia OMIM:620305
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Unconjugated hyperbi... OMIM:620186
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Anterior pituitary hypoplasia... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Micropenis, Hypertension, Hyperbilirubinemia OMIM:210710
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Johanson-Blizzard Syndrome
Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Septate vagina, Portal hypertension, Cryp... OMIM:243800
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Choreoathetosis, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Vesicovaginal fistula, Neonatal hyperbilirubinemia OMIM:300896
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
African Trypanosomiasis
Abnormal EKG, Pericarditis, Akinesia, Myocarditis, Congestive heart failure, Abnormal prolactin l... ORPHA:3385
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Abnormal T-wave ORPHA:444072

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 Gpbp1

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 Gpbp1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gpbp1l1tm1a(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Gpbp1l1tm1a(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gpbp1l1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Gpbp1l1tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Gpbp1l1tm1a(EUCOMM)Wtsi PMC5827107

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gpbp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpbp1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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