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Genes Phenotypes Help, News, Blog

Gene: Esrrg MGI:1347056

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
estrogen-related receptor gamma
Synonyms:
estrogen-related receptor 3,  ERR3,  NR3B3,  Errg

Order Alleles

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Esrrg 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 Esrrg by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 7
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Sudden cardiac dea... OMIM:113900
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Spastic Paraplegia With Associated Extrapyramidal Signs
Abnormality of extrapyramidal motor function, Spastic paraplegia OMIM:182800
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Hyperekplexia 3
Hypertonia, Exaggerated startle response OMIM:614618
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal speech discrimina... OMIM:609129
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Developmental And Epileptic Encephalopathy 8
Hypertonia, Exaggerated startle response OMIM:300607
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Senior-Loken Syndrome 1
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Hypertrophic cardiomyopathy, Right bund... OMIM:613243
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Hyperekplexia 2
Hypertonia, Myoclonus, Exaggerated startle response OMIM:614619
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology ORPHA:111
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:613643
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Nephronophthisis 18
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... OMIM:615862
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Senior-Loken Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block OMIM:613158
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Coach Syndrome 3
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... OMIM:619113
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Nephronophthisis 4
Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Hematuria, Proteinuria, Tubulointerstitial nephritis, Stage 5 chron... OMIM:614817
Joubert Syndrome 4
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency OMIM:609583
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Hyperekplexia-Epilepsy Syndrome
Hypertonia, Exaggerated startle response ORPHA:163985
Nephronophthisis 3
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Beta 2-microglobulinuria, Renal cortical hyperech... OMIM:611555
Nephronophthisis 15
Nephronophthisis OMIM:614845
Developmental And Epileptic Encephalopathy 68
Spasticity, Clonus, Myoclonus, Exaggerated startle response OMIM:618201
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Tubulointerstitial fibrosis, Tubular basement membrane... OMIM:256100
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of... ORPHA:2838
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Nephronophthisis 13
Nephronophthisis, Renal hypoplasia, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Senior-Loken Syndrome
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease ORPHA:3156
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Nathalie Syndrome
Abnormal EKG OMIM:255990
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Senior-Loken Syndrome 3
Stage 5 chronic kidney disease, Enuresis, Polyuria, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Decreased activity of mitochondri... OMIM:618378
Nephronophthisis 19
Nephronophthisis, Stage 5 chronic kidney disease OMIM:616217
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Renal tubular atrop... OMIM:603860
Gm2-Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Spastic tetraparesis, Paralysis, Dystonia, Chorea, Exaggerated startle r... OMIM:272750
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Urofacial Syndrome 2
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... OMIM:615112
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Hyperekplexia 1
Hypertonia, Frequent falls, Myoclonus, Exaggerated startle response OMIM:149400
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death, Prolonged QT interval, No... OMIM:610198
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Right bundle branch block ORPHA:206559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Dysphagia, Right bundle branch block OMIM:616479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Exaggerated startle response OMIM:618367
Gm2 Gangliosidosis, Ab Variant
Abnormal pyramidal sign, Dystonia, Chorea, Exaggerated startle response, Progressive spastic quad... ORPHA:309246
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Congenital Primary Megaureter
Nephrolithiasis, Abnormal penis morphology, Hydronephrosis, Abnormality of the upper urinary trac... ORPHA:617
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysphagia ORPHA:94125
Myofibrillar Myopathy 10
Increased QRS voltage, Increased circulating troponin I concentration, Prolonged QTc interval OMIM:619040
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Aortic regurgitation, Arrhythmia, Congestive heart failur... ORPHA:75566
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Ankle clonus, Babinski sign, Spastic paraplegia, Exaggerated startle response OMIM:609541
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Ton... OMIM:608643
Nephronophthisis 11
Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Renal tubular atrophy, Rena... OMIM:613550
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis OMIM:616629
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Renal corticom... OMIM:613159
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Progressive spastic paraplegia, Abnormality of extrapyramidal motor function, Exaggerated startle... ORPHA:320406
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Jeune Syndrome
Nephronophthisis, Nephropathy, Renal insufficiency ORPHA:474
Vesicoureteral Reflux 3
Hydronephrosis, Vesicoureteral reflux, Hydroureter OMIM:613674
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Polydipsia, Intracranial hemorrhage, Epistaxis ORPHA:251274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Pseudohypoparathyroidism Type 2
Prolonged QT interval ORPHA:94090
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Senior-Loken Syndrome 8
Nephronophthisis OMIM:616307
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Hypertonia, Exaggerated startle response OMIM:272800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval OMIM:615351
Cirrhotic Cardiomyopathy
Increased circulating troponin I concentration, Left ventricular diastolic dysfunction, Elevated ... ORPHA:57777
Stiff-Person Syndrome
Frequent falls, Opisthotonus, Myoclonic spasms, Rigidity, Exaggerated startle response OMIM:184850
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Parkinson Disease 17
Parkinsonism, Resting tremor, Bradykinesia, Rigidity, Tremor OMIM:614203
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Arrhythmia, Prolonged QT interval, Atrioventricular block, Abnormal elect... ORPHA:398124
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Dysphagia, Right bundle branch block ORPHA:254361
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Atrial Septal Defect, Ostium Primum Type
Prolonged PR interval, Atrial flutter, Systolic heart murmur, Congestive heart failure, Abnormall... ORPHA:99106
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... OMIM:302060
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Low-frequency sensorineural hearing impairment, Abnormal speec... ORPHA:87884
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Decreased numbers of neph... ORPHA:2260
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Abnormal renal corticomedullary differentiation OMIM:616733
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Dilated cardiomyopathy, Abnormal T-wave, Tor... ORPHA:37553
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal cyst, Stage 5 chronic kidney disease, Renal dysplasia, Nephropathy, Nephronophthisis OMIM:266920
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Rhyns Syndrome
Nephronophthisis, Chronic kidney disease, Renal insufficiency OMIM:602152
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Congestive heart failure, Abnormal atrioventricular conduction, Right bund... ORPHA:439
Atrial Septal Defect, Coronary Sinus Type
Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second heart sound, ... ORPHA:99104
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Atrophoderma Vermiculata
Heart block ORPHA:79100
Tay-Sachs Disease
Incoordination, Dysmetria, Dystonia, Frequent falls, Decerebrate rigidity, Fasciculations, Tremor... ORPHA:845
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Blepharospasm, Bradykinesia, Leg dystonia, Rigidity, Postural tremor, Parkinsonis... OMIM:606324
Hinman Syndrome
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... ORPHA:84085
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Dysphagia ORPHA:1177
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Prolonged QT interval, Abnormal left ventricular function ORPHA:36913
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Congestive heart failure, Sudden cardiac death, Right bundle branch block, Atrial fib... ORPHA:1880
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Sandhoff Disease
Fasciculations, Ataxia, Upper motor neuron dysfunction, Spasticity, Exaggerated startle response OMIM:268800
Asparagine Synthetase Deficiency
Spastic tetraplegia, Exaggerated startle response OMIM:615574
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... OMIM:612158
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism, Resting tremor, Bradykinesia OMIM:614251
Parkinson Disease 21
Rigidity, Parkinsonism, Bradykinesia, Tremor OMIM:616361
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Abnormal EKG, Dysphagia, Right bundle branch block ORPHA:268
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Bidirectional ventricular ectopy, Prolonged QT interval, Syncope, Prominent U wave OMIM:170390
Joubert Syndrome 6
Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Decreased plasma carnitine, Decreased 3-hydr... ORPHA:71212
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:229300
Scorpion Envenomation
Increased circulating troponin I concentration, Arrhythmia, Premature ventricular contraction, Co... ORPHA:466677
Glycine Encephalopathy With Normal Serum Glycine
Hypertonia, Clonus, Exaggerated startle response OMIM:617301
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Dysphagia, Bradycardia, Tachycardia OMIM:613327
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality of the ureter, Decreased... ORPHA:93101
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Prolonged ... ORPHA:26793
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Pericarditis ORPHA:231111
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response ORPHA:438216
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mitral regurgitation, Tricuspid regurgitation, Dysphagia, Right bundle branch block OMIM:619576
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Chronic kidney disease OMIM:615630
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Arrhythmia, Mucosal telangiectasiae, Bundle branch block, Telangiect... ORPHA:93672
Urofacial Syndrome 1
Hydronephrosis, Enuresis, Urethral obstruction, Recurrent urinary tract infections, Hydroureter, ... OMIM:236730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Decreased glomerular filtration rate, Renal hypoplasia, Renal salt wasting,... OMIM:174000
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal pyramidal sign, Rigidity, Babinski sign, Exaggerated startle response, Abnormality of ex... OMIM:617527
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Limb hypertonia, Rigidity, Exaggerated startle response, Progressive spastic quadripleg... ORPHA:521426
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... OMIM:263200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Dysphagia, Arrhythmia ORPHA:480864
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Gitelman Syndrome
Ventricular tachycardia, Polydipsia, Hypotension, Prolonged QT interval, Palpitations, Salt craving OMIM:263800
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple small medullary r... OMIM:216360
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hydronephrosis, Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Stage 2 chro... OMIM:191800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Dilated cardiomyopathy, Dysphagia, Arrhythmia ORPHA:352447
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy OMIM:610773
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Oral-phary... OMIM:616878
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Abnormality of the mitochondrion, Low-output congestive heart failure ORPHA:91130
Pseudohypoparathyroidism Type 1B
Prolonged QT interval ORPHA:94089
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Ventricular fibrillation, Polydipsia, Palpitations, Prolo... ORPHA:358
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Atrial arrhythmia, Atrioventricular block OMIM:310300
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Arrhythmia, Abnormal left ventricular function, Left anterior fascicular block, Heart murmur, Hyp... ORPHA:437572
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Cocaine Intoxication
Hypovolemia, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Ventricular arrhyth... ORPHA:90068
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval ORPHA:66634
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal EKG, Cardiomyopathy OMIM:310200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormality of medullary pyramid morphology ORPHA:79243
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Ethylene Glycol Poisoning
Congestive heart failure, Hypotension, Prolonged QT interval, Atrial fibrillation, Hypertension, ... ORPHA:31826
Gm1 Gangliosidosis Type 1
Decerebrate rigidity, Spasticity, Exaggerated startle response ORPHA:79255
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Abnormal left ventricular function, Congestive heart failure, Pulmonary embolism... ORPHA:70591
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval OMIM:300352
Histiocytoid Cardiomyopathy
Shortened PR interval, Atrial flutter, Ventricular tachycardia, Congestive heart failure, Wolff-P... ORPHA:137675
Desminopathy
Congestive heart failure, Sudden cardiac death, Atrioventricular block, Concentric hypertrophic c... ORPHA:98909
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Reduced renal corticomedullary differentiation, Decreased glomerular filtration rate, Global glom... OMIM:602522
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Hypertrophic cardiomyopathy, Bundle branch block, Myocardial infarction, Pulmonic ste... ORPHA:500
Joubert Syndrome 5
Nephronophthisis, Renal cortical cysts, Stage 5 chronic kidney disease, Impaired renal concentrat... OMIM:610188
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Rigid Spine Syndrome
Cardiac conduction abnormality ORPHA:97244
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bifid ureter, Decrea... OMIM:617641
Arima Syndrome
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... OMIM:243910
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Senior-Boichis Syndrome
Reduced renal corticomedullary differentiation, Abnormal renal insterstitial morphology, Renal hy... ORPHA:84081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number ORPHA:352470
Marbach-Rustad Progeroid Syndrome
Right bundle branch block, Pulmonary insufficiency OMIM:619322
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolonged QT interval, ... ORPHA:466650
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Ventricular fibrillation, Shortened PR interval, Prolonged ... ORPHA:79102
Fabry Disease
Mucosal telangiectasiae, Arrhythmia, Congestive heart failure, Bundle branch block, Hypertrophic ... ORPHA:324
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Right bundle branch block, Congestive heart failure OMIM:617403
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Vestibular dysfunction, Prelingual sensorineural ... ORPHA:52368
Aortic Arch Interruption
Systolic heart murmur, Aortic regurgitation, Congestive heart failure, Shock, Absent pulse, Right... ORPHA:2299
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:601992
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Abnormality of the outer ear,... OMIM:201050
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Nephrolithiasis, Recurrent urinary tract infections, Ureteral obstruction, Rena... ORPHA:93599
Friedreich Ataxia And Congenital Glaucoma
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:229310
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Dysphagia ORPHA:275872
Ochoa Syndrome
Hydronephrosis, Urethral obstruction, Recurrent urinary tract infections, Renal insufficiency, Ur... ORPHA:2704
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Dysphagia ORPHA:99013
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Heart block, Capillary leak, Tachycardia ORPHA:542323
Myopathy With Lactic Acidosis, Hereditary
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex II, Ab... OMIM:255125
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, D... OMIM:500013
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Joubert Syndrome 2
Nephronophthisis, Abnormal renal physiology, Renal cyst OMIM:608091
Pseudohypoparathyroidism Type 1C
Polyphagia, Prolonged QT interval ORPHA:79444
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Leopard Syndrome 1
Third degree atrioventricular block, Bundle branch block, Hypertrophic cardiomyopathy, Pulmonic s... OMIM:151100
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Hematuria, Aminoaciduria, Renal insufficiency, Hyperoxaluria, Calcium oxalate n... OMIM:260000
Cranioectodermal Dysplasia 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:614099
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Posterior Urethral Valve
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... ORPHA:93110
Eisenmenger Syndrome
Right-to-left shunt, Elevated jugular venous pressure, Ventricular tachycardia, Left-to-right shu... ORPHA:97214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Pseudo-Torch Syndrome 2
Abnormal renal corticomedullary differentiation OMIM:617397
Pseudohypoparathyroidism Type 1A
Polyphagia, Prolonged QT interval, Hypertension ORPHA:79443
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Right bundle branch block, Pulmonary arterial hypertension, Hypertension, Mitr... OMIM:614008
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Pulmonic stenosis ORPHA:529962
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Al Amyloidosis
Increased circulating troponin I concentration, Gastrointestinal hemorrhage, Arrhythmia, Jaw clau... ORPHA:85443
Refsum Disease
Heart block, Cardiomyopathy ORPHA:773
Short Rib-Polydactyly Syndrome
Multiple glomerular cysts, Abnormality of the kidney, Polycystic kidney dysplasia, Nephronophthis... ORPHA:1505
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Cardiomyopathy ORPHA:373
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypertension, Palpitations, Intracranial hemorrhage, Epistaxis ORPHA:231625
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Abnormal atrioventricular conduction, Atrioventricular block OMIM:118230
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Decreased pyruvate carboxylase activity, Congestive heart failure, Abnormal echocardiogram, Abnor... OMIM:302900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormality of blood circulation, Heart murmur, Left ventricular outflo... ORPHA:860
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Premature atrial contractions, Mobitz I atrioventricular blo... ORPHA:216694
Atresia Of Urethra
Dilatation of the bladder, Hydronephrosis, Patent urachus, Megacystis, Renal dysplasia, Recurrent... ORPHA:105
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Mitral regurgitation, Tricuspid regurgitation, Right bundle branch block, Pulmonic stenosis OMIM:617506
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Stereotypical hand wringing, Involuntary movements, Exaggerated startle response, Myocl... ORPHA:438213
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
45,X/46,Xy Mixed Gonadal Dysgenesis
Azoospermia, Tachycardia, Prolonged QT interval ORPHA:1772
Heart Block, Congenital
Absent atrioventricular node, Atrial arrhythmia, Cardiomyopathy, Atrioventricular block, Mitral r... OMIM:234700
Cutis Laxa, Autosomal Recessive, Type Iic
Tricuspid regurgitation, Right bundle branch block, Aortic regurgitation OMIM:617402
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Abnormal atrioventricular conduction, Orthostatic hypotension, Atrioventricular block OMIM:118301
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur, Reduced ejection fractio... ORPHA:1677
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Arrhythmia, Cardiomyopathy, Decreased plasma free carnitine, He... ORPHA:228308
Dopamine Beta-Hydroxylase Deficiency
Syncope, Abnormal EKG, Orthostatic hypotension, Orthostatic syncope ORPHA:230
Dpagt1-Cdg
Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Degcags Syndrome
Chordee, Renal hypoplasia, Abnormal renal medulla morphology, Chronic kidney disease, Bilateral r... OMIM:619488
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Shortened QT interval, Dysphagia ORPHA:99880
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Hydronephrosis, Fetal megacystis, Megacystis OMIM:619362
Parathyroid Carcinoma
Polydipsia, Shortened QT interval, Dysphagia ORPHA:143
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Hydronephrosis, Megacystis OMIM:619431
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of the mitochondrion ORPHA:330050
Atrioventricular Septal Defect 3
Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulmonary arte... OMIM:600309
Cornelia De Lange Syndrome 1
Ectopic kidney, Renal cyst, Reduced renal corticomedullary differentiation, Proteinuria, Renal hy... OMIM:122470
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Osteopetrosis, Autosomal Recessive 5
Absence of renal corticomedullary differentiation OMIM:259720
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Atrioventricular block, Ventricular escape rhythm, ... ORPHA:98855
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99413
Turner Syndrome
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:881
Mosaic Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99228
Monosomy X
Prolonged QT interval, Hypertension, Myocardial infarction ORPHA:99226
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block... ORPHA:98853
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block ORPHA:392
Absence Of The Pulmonary Artery
Atrial flutter, Reduced ejection fraction, Systolic heart murmur, Congestive heart failure, Abnor... ORPHA:980
Primary Hyperoxaluria
Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion ORPHA:416
Cardiac Diverticulum
Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, Premature ventricular contraction,... ORPHA:1686
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling ORPHA:397744
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Absent brainstem auditory responses, De... ORPHA:101085
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Atrioventricular block, Ventricular escape rhy... ORPHA:98863
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Orthostatic h... ORPHA:99027
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Alagille Syndrome 1
Renal tubular acidosis, Multiple small medullary renal cysts, Renal hypoplasia, Renal dysplasia, ... OMIM:118450
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardi... ORPHA:255210
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Dysphagia ORPHA:412217
Autosomal Recessive Polycystic Kidney Disease
Oliguria, Enlarged kidney, Reduced renal corticomedullary differentiation, Acute kidney injury, P... ORPHA:731
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Oral-pharyngeal dysphagia, Cardiac conduction abnormality, Dysphagia... ORPHA:2131
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Dysphagia ORPHA:485421
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex III, H... ORPHA:17
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Pulmonic stenosis,... ORPHA:70474
Trisomy 10P
Abnormality of the ear, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potent... ORPHA:171929
Cockayne Syndrome Type 1
Hearing impairment, Macrotia, Absent brainstem auditory responses, Optic atrophy, Abnormality of ... ORPHA:90321
Scimitar Syndrome
Pulmonary arterial hypertension, Heart block, Left-to-right shunt, Congestive heart failure ORPHA:185
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy ORPHA:175
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Multiple Endocrine Neoplasia Type 1
Hematemesis, Shortened QT interval, Hypertension, Melena ORPHA:652
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the mitochondrion, Dysphagia ORPHA:298
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced ejection fraction, Arrhythmia, Ventricular arrhythmia, Atrial fib... ORPHA:254892
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Hyperoxaluria, Primary, Type I
Intermittent claudication, Raynaud phenomenon, Atrioventricular block, Arterial occlusion OMIM:259900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Atrioventricular block ORPHA:371428
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic neuropathy, Decreased nerve conduction velo... ORPHA:909
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Atrial Septal Defect 1
Second degree atrioventricular block, Aortic valve stenosis OMIM:108800
Cockayne Syndrome B
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:133540
Cockayne Syndrome A
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Decreased n... OMIM:216400
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism ORPHA:31
African Trypanosomiasis
Second degree atrioventricular block, Arrhythmia, Congestive heart failure, Abnormal EKG, Third d... ORPHA:3385
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Sialuria
Abnormality of the mitochondrion ORPHA:3166
Sarcoidosis
Portal hypertension, Ventricular tachycardia, Arrhythmia, Abnormal cardiac ventricular function, ... ORPHA:797
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormality of the mitochondrion OMIM:214110
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Steinert Myotonic Dystrophy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Prolonged PR interval, Oral-pharyn... ORPHA:273
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Decreased methylmalonyl-CoA mutase activity OMIM:277410
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity OMIM:251110
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity OMIM:277400

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 Esrrg

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 Esrrg.

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

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