Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
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
shortened PQ interval Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 3.03×10-05
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
abnormal seminal vesicle morphology Gpbp1tm1b(EUCOMM)Wtsi HET Early adult 0.00

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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.

Electrocardiogram (ECG)

Waveform Image

38 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... OMIM:610947
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Glycogen Storage Disease Ii
Sinus tachycardia, Difficulty walking, Shortened PR interval, Elevated circulating creatine kinas... OMIM:232300
Malaria
Elevated circulating C-reactive protein concentration, Gait imbalance, Hyperbilirubinemia ORPHA:673
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Decreased response to growth hormone stimulation test, Hypogonadism,... ORPHA:3363
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... ORPHA:137675
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Second degree atrioventricular block, Hypomagne... ORPHA:79102
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Inability to walk, Mitra... OMIM:620066
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Elevated circulating creatine kinase concent... OMIM:310300
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:620010
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Nathalie Syndrome
Abnormal EKG OMIM:255990
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Shortened PR interval, Ataxia, Unsteady gait, Hypertension OMIM:614947
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Elevated circulating creatine kinase concentr... ORPHA:308552
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Increased total bilirubin ORPHA:2924
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Hypertrophic cardiomyopathy, Difficulty walking, Transient ischemic attack, Inability... ORPHA:365
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... OMIM:605814
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Biliary Atresia, Extrahepatic
Increased total bilirubin, Atretic gallbladder, Hyperbilirubinemia, Unconjugated hyperbilirubinem... OMIM:210500
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Portal hypertension, Increased serum bile acid concentration, Increased total... OMIM:616278
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Abnormal EKG ORPHA:1177
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Hijazi-Reis Syndrome
Hyperbilirubinemia, Gait disturbance OMIM:301094
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr... ORPHA:542323
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorrhag... ORPHA:247598
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Ele... OMIM:310200
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation, Increased serum pyruvate ORPHA:94125
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... OMIM:614300
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrhythmia, El... OMIM:606069
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Hyperbilirubinemia, Decreased growth hormo... OMIM:609734
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Congestive heart failure OMIM:269920
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, At... OMIM:229300
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
3-Methylglutaconic Aciduria, Type V
Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Cryptor... OMIM:610198
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Hyperbilirubinemia, Neonatal hypoglycemia, Posterior p... OMIM:613986
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Cryptorchidism, Hypoglycemia OMIM:619075
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Type II diabetes mellitus, Conjugated hyperbilirubinemia, Elevated hepatic iron concentration, In... OMIM:616860
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Goiter, Bradycardia ORPHA:95716
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin ORPHA:90036
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Prostate cancer, Hypertriglycer... ORPHA:158057
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperuricemia, Hyperalaninemia, Fasting hypoglycemia, ... ORPHA:348
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... ORPHA:766
Megaloblastic Anemia, Folate-Responsive
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration OMIM:601775
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Hyperbilirubinemia, ... OMIM:617156
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Hyperglycemia, Hyperbilirubinemia, Absent gallbladder, D... OMIM:615710
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Hypermanganesemia, Steppage gait, Increased total iron binding c... OMIM:613280
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Hyperbilirubin... ORPHA:1667
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Pseudohypoparathyroidism, Prolonged QT inte... ORPHA:94090
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Ataxia ORPHA:713
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Conjugated hyperbilirubinemia OMIM:605479
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia ORPHA:95715
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Increased circulating ferritin concentration, Increased total bilirubin,... OMIM:267700
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Tip-toe gait, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglut... ORPHA:3008
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Hyperbilirubinemia, Increased total iron binding capaci... ORPHA:98870
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Increased serum bile acid concentration, Hypercholesterolemia, Conjugated hy... OMIM:619662
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Conjugated hyperbilirubinemia OMIM:211600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hypoglycemia, Increased total bilirubin, Elevated circulating creatinine ... OMIM:608836
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia, Insulin resistance ORPHA:73272
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Fanconi-Bickel Syndrome
Hypouricemia, Postprandial hyperglycemia, Glycosuria, Hyperbilirubinemia, Increased serum bile ac... OMIM:227810
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... OMIM:617049
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Cholelithiasis, Hyperbilirubinemia, Abn... OMIM:614886
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia OMIM:182900
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Abetalipoproteinemia
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Congestive heart failure, Hypocho... ORPHA:14
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Distal Xq28 Microduplication Syndrome
Epistaxis, Neonatal hyperbilirubinemia, Tip-toe gait ORPHA:293939
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase co... OMIM:232800
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Ventricular fibrillation, Prolonged PR interval, ... ORPHA:358
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration OMIM:618892
Mirizzi Syndrome
Cholelithiasis, Hyperbilirubinemia, Gallbladder perforation, Abnormal ductus choledochus morpholo... ORPHA:521219
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Reduced haptoglobin level, Micropenis, Unconjuga... OMIM:613673
Congenital Bile Acid Synthesis Defect Type 2
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration ORPHA:79303
Hereditary Spherocytosis
Hyperbilirubinemia, Cholelithiasis, Restrictive cardiomyopathy, Ataxia ORPHA:822
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia OMIM:235700
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hyperbilirubinemia, Portal hypertension ORPHA:64743
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Hypoglycemic seizures, Hypoglycemia, Abnormal E... ORPHA:480864
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Goiter, Abnormal circ... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, Cerebral is... ORPHA:90065
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Bile duct proliferation ORPHA:79302
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Abnormal EKG, Inability to walk, Reduced left ventricular ejection fraction, Elevat... ORPHA:268
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hypoglycemia, Hyperbilirubinemia, Portal hypertension, Elevated circulating alph... OMIM:251880
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Thyroid hypoplasia, Increased circulating thyroglobulin concentratio... ORPHA:90673
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hyperbilirubinemia, Bile duct proliferation OMIM:613812
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:266120
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia OMIM:235555
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased total bilirubin, Increased circulating fer... ORPHA:3202
Rh Deficiency Syndrome
Tachycardia, Hyperbilirubinemia, Reduced haptoglobin level ORPHA:71275
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia OMIM:301083
Rh-Null, Amorph Type
Hyperbilirubinemia OMIM:617970
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Hyperlipidemia, Hypogonadotropic hypogonadism, Microp... OMIM:241080
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Abnormal pineal melatonin secretion, Increased serum bile acid concentration ORPHA:69665
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Increased total bilirubin, Increased circulating ferritin concentration,... OMIM:603553
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Hypospadias, Clitoral hypertrophy, Tricuspid regurgitation, Elevated circul... OMIM:614866
Rett Syndrome
Abnormal T-wave, Gait ataxia, Gait apraxia, Truncal ataxia, Prolonged QTc interval OMIM:312750
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hypoglycemia, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia OMIM:617093
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia, Glycosuria OMIM:613404
Lathosterolosis
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Ambiguous gen... OMIM:607330
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Conjugated hyperbilirubinemia ORPHA:294
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Reduced haptoglobin level OMIM:266200
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Hypokalemia, Intracr... ORPHA:231625
Cystic Echinococcosis
Abnormality of the testis size, Hyperbilirubinemia, Ovarian cyst ORPHA:400
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Cryptorchidism, Micropenis, Heart murmur, I... ORPHA:163979
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Hyperbilirubinemia, Bradycardia, Thyroid hypoplasia, Increased circulating thyroglobulin ... OMIM:218700
Graft Versus Host Disease
Tachycardia, Hyperbilirubinemia ORPHA:39812
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased response to growth hormone stimul... ORPHA:3464
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Inability to walk, Hyperkalemia, Conjugated hyperbilirubinemia, Ataxia OMIM:608885
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Steinert Myotonic Dystrophy
Hyperinsulinemia, Prolonged PR interval, Secondary hyperparathyroidism, Male hypogonadism, Cholel... ORPHA:273
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Conjugated hyperbilirubinemia OMIM:607765
Al Amyloidosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia,... ORPHA:85443
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary hyperplasia, Abnormal circulating fa... ORPHA:567983
Ogden Syndrome
Torsade de pointes, Premature atrial contractions, Decreased testicular size, Hyperbilirubinemia,... OMIM:300855
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, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hyperuricemia, Hypopho... OMIM:229600
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Cholelithiasis ORPHA:288
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia ORPHA:529799
Yellow Fever
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated circulating c... ORPHA:99829
Glycogen Storage Disease Xii
Cholelithiasis, Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kina... OMIM:611881
Caroli Syndrome
Hyperbilirubinemia, Portal hypertension, Hematemesis, Abnormal ductus choledochus morphology, Mel... ORPHA:480520
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Reynolds Syndrome
Gastrointestinal hemorrhage, Palmar telangiectasia, Hyperbilirubinemia, Raynaud phenomenon, Calci... OMIM:613471
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Broad-based gait, Falls, Tip-toe gait, Bifid scrotum, Congestive heart fail... OMIM:619475
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia OMIM:208085
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Mitral stenosis, Cryptorchidism, Pulmonary arterial hypertension, Mi... ORPHA:163956
Sickle Cell Anemia
Cholelithiasis, Pigment gallstones, Elevated circulating creatinine concentration, Ischemic strok... ORPHA:232
Congenital Sialidosis Type 2
Telangiectasia, Dysmetria, Ataxia, Abnormal EKG ORPHA:93400
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Hyperbilirubinemia, Pancreatic fibrosis OMIM:557000
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv... ORPHA:70591
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia OMIM:224120
Dextrocardia
Abnormal reproductive system morphology, T-wave inversion, Pancreatic hypoplasia, Abnormal EKG ORPHA:1666
Osteopetrosis, Autosomal Recessive 5
Hyperbilirubinemia, Hypocalcemia OMIM:259720
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic fibrosis, Pulmonary insufficiency, Pancreatic cysts, Conjugated hyperbilirubinemia, Bi... OMIM:208500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Wilson Disease
Hypouricemia, Hypoalbuminemia, Glycosuria, Hyperbilirubinemia, Increased circulating copper conce... OMIM:277900
Liver Disease, Severe Congenital
Elevated circulating alpha-fetoprotein concentration, Hypospadias, Pancreatic hypoplasia, Increas... OMIM:619991
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Portal hypertension, Hypercholesterole... ORPHA:186
Caroli Disease
Cholelithiasis, Portal hypertension, Conjugated hyperbilirubinemia ORPHA:53035
Fumarase Deficiency
Hyperbilirubinemia OMIM:606812
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Ataxia ORPHA:168577
Degcags Syndrome
Hyperbilirubinemia, Cryptorchidism, Chordee, Pulmonary arterial hypertension, Ambiguous genitalia... OMIM:619488
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Small scrotum, Hypoglycemia, Portal hypertension, Hypocalcemia, Unconjugated hyp... OMIM:613658
Isolated Biliary Atresia
Hypopituitarism, Conjugated hyperbilirubinemia, Bile duct proliferation, Atretic gallbladder ORPHA:30391
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, R... ORPHA:447
Cranioectodermal Dysplasia 2
Hyperbilirubinemia, Hypertension, Bile duct proliferation OMIM:613610
Senior-Boichis Syndrome
Hypertension, Portal hypertension, Increased total bilirubin ORPHA:84081
Neurooculorenal Syndrome
Ectopic posterior pituitary, Conjugated hyperbilirubinemia, Cryptorchidism, Recurrent hypoglycemia OMIM:620305
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Elevated circulating C-reactive protein concentration, Conjugated hyperbilirubinemia, ... OMIM:620376
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Abnormal ductus choledochus morphology ORPHA:562639
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Diabetic ... OMIM:601992
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Pulmonary arterial hypertension, Hypoplastic nipples, Uncon... OMIM:620186
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Hardikar Syndrome
Hyperbilirubinemia, Portal hypertension, Hematemesis, Hypertension, Bile duct proliferation OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Hypoalbuminemia, Increased circulating ferritin concen... OMIM:619534
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micropenis, Hyperbilirubinemia, Hypertension, Cryptorchidism OMIM:210710
Johanson-Blizzard Syndrome
Hypospadias, Clitoral hypertrophy, Dilated cardiomyopathy, Septate vagina, Portal hypertension, H... OMIM:243800
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Elevated circul... ORPHA:90068
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Ataxia, Choreoathetosis ORPHA:2131
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Hypertension, Vesicovaginal fistula OMIM:300896
Congenital Erythropoietic Porphyria
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi... ORPHA:79277
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Unconjugated hyperbilirubinemia OMIM:618278
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Cryptorchidism, Hypogonadotropic hypogonadism, Arrhythmia ORPHA:648
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)