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Gene: Rfc5 MGI:1919401

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Gene Summary

Name:
replication factor C (activator 1) 5
Synonyms:
2610020K06Rik,  36.5kDa,  2610209F07Rik,  Recc5,  36kDa

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
embryonic lethality prior to organogenesis Rfc5em1(IMPC)J HOM   E9.5 0.00
decreased heart rate Rfc5em1(IMPC)J HET   Early adult 1.99×10-05
decreased circulating phosphate level Rfc5em1(IMPC)J HET Early adult 1.85×10-07
prolonged RR interval Rfc5em1(IMPC)J HET   Early adult 1.36×10-05
preweaning lethality, complete penetrance Rfc5em1(IMPC)J HOM   Early adult 0.00

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electroretinography 3

Fundus file

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

16 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rfc5 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 Rfc5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
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
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Bradycardia OMIM:620265
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Congestive heart failure, Hyperalaninemia, Bradycardia OMIM:619048
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem... ORPHA:31824
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Decreased circulating carnitine concentration, Brady... OMIM:618235
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B... OMIM:616299
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Hypertension OMIM:618913
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin... OMIM:212138
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Timothy Syndrome
Atrioventricular block, Hypocalcemia, Pulmonary arterial hypertension, Ventricular tachycardia, B... OMIM:601005
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Bradycardia ORPHA:95717
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Autoimmune Hypoparathyroidism
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricular arrhythm... ORPHA:36913
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperalaninemia, Hyperammonemia, Bradycardia OMIM:614702
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Hyperkalemia OMIM:141000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... OMIM:616812
Liddle Syndrome
Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Glycogen Storage Disease Iv
Abnormal circulating creatine kinase concentration, Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Malignant Hyperthermia Of Anesthesia
Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ... ORPHA:423
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Tachycardia, Palpitations OMIM:188580
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Palpitations, Shorten... ORPHA:79102
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Bradycardia OMIM:610015
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia ORPHA:3299
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Cystinosis
Hypokalemia, Hypophosphatemia, Portal hypertension ORPHA:213
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... ORPHA:94093
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Bradycardia ORPHA:95716
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated creatine kinase ORPHA:99845
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Pseudohypoparathyroidism Type 1B
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94089
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Elevated circulating creatine kinase c... OMIM:618775
Ebstein Anomaly
Atrial standstill, Right bundle branch block, Ventricular preexcitation, Atrial fibrillation, Sud... OMIM:224700
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Elevated circulating creatine kinase concentration, Prolonged QT interval, Hypertrig... OMIM:613327
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Hypertension, Azotemia OMIM:104200
Necrotizing Enterocolitis
Shock, Hypotension, Hyponatremia, Bradycardia ORPHA:391673
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Cardiomyopathy ORPHA:289157
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia OMIM:610768
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Autosomal Dominant Hypocalcemia
Hypotension, Hyperphosphatemia, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Arrhythmia ORPHA:428
D-Glyceric Aciduria
Elevated circulating D-glyceric concentration, Nonketotic hyperglycinemia, Bradycardia OMIM:220120
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia OMIM:620351
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia ORPHA:90673
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Congestive heart failure ORPHA:90037
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Tachycardia OMIM:613239
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Hypomethioninemia, Pulmonary arterial hypertension, Hyperhomocysti... OMIM:277400
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Dent Disease 1
Hypophosphatemia OMIM:300009
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia, Shortened QT interval ORPHA:99880
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Tachycardia, Hypotension, Bradycardia ORPHA:90051
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo... ORPHA:466650
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Abnormal circulating protein concentration, Elevated circulating carcinoembryonic an... ORPHA:264675
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia, Shortened QT interval ORPHA:143
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia OMIM:614653
Pearson Syndrome
Cardiomyopathy, Hypomagnesemia, Cardiac conduction abnormality, Hypocalcemia, Hypokalemia, Hypoph... ORPHA:699
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Opsismodysplasia
Hypophosphatemia OMIM:258480
Lujo Hemorrhagic Fever
Hypotension, Shock, Elevated circulating C-reactive protein concentration, Bradycardia, Myocardit... ORPHA:319213
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... ORPHA:90674
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Hyperphosphatemia, Shock, Elevated circulatin... ORPHA:340
Sheehan Syndrome
Hyponatremia, Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Encephalitis Lethargica
Bradycardia ORPHA:83600
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... ORPHA:26793
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hyperbilirubinemia, Hyperuricemia, Hypophosphatemia, Bicarbonaturia OMIM:229600
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration ORPHA:79155
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Raine Syndrome
Hypophosphatemia OMIM:259775
Marburg Hemorrhagic Fever
Hypoalbuminemia, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine ... ORPHA:99826
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Prolonged QT interval, Hypocalc... ORPHA:79444
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul... OMIM:613426
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentration,... ORPHA:99829
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Pulmonary arterial hypertension, Hypocalcemia ORPHA:667
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia OMIM:218700
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Prolonged QT interval, Hypocalc... ORPHA:79443
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypomagnesemi... OMIM:248250
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900

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 Rfc5

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 Rfc5.

No publications found that use IMPC mice or data for Rfc5.

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MGI Allele Allele Type Produced
Rfc5em1(IMPC)J Exon Deletion Mice
Rfc5tm373439(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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