Gene Summary

Name:
GTP cyclohydrolase 1
Synonyms:
GTPCH,  GTP-CH

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic lethality prior to tooth bud stage Gch1em1(IMPC)H HOM   E12.5 0.00
preweaning lethality, complete penetrance Gch1em1(IMPC)H HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

Human diseases caused by Gch1 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.

The table below shows human diseases associated to Gch1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Gch1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Hyperthyroidism, Familial Gestational
Tachycardia, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperth... OMIM:603373
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Sinus bradycar... ORPHA:101016
Paragangliomas 3
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:605373
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Cardiogenic shock, Palpitations, Arrhythmia, Decreased QRS voltage, Angin... ORPHA:66529
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Maternal diabetes, Arrhythmia, Paroxysmal supraventricular tachycardia... ORPHA:45452
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Paragangliomas 1
Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph... OMIM:168000
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, B... ORPHA:95717
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Decreased respon... OMIM:618160
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Bradycardia ORPHA:542306
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Abnormal posturing, Gait disturbance, Toe walking, Weight loss, Opisthotonus, ... ORPHA:216866
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Abnormality of the thyroid gland, Hypogonadism, Diabetes mellitus, Bradycardia, Cardi... OMIM:609286
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Bradycardia ORPHA:70587
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Failure to thrive in infancy, Postnatal growth retardation, Hepato... OMIM:232700
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Huntington Disease-Like 1
Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Weight loss, Bradykinesia, Dysmetria ORPHA:157941
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block, Cardiac ... OMIM:212138
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dystonia OMIM:304700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancrea... ORPHA:276580
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Timothy Syndrome
Hypothyroidism, Bradycardia, Prolonged QT interval OMIM:601005
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Growth delay, Decreased methionine synthase activity, Homocystinuria OMIM:614857
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Pure Autonomic Failure
Abnormality of circulating catecholamine level, Orthostatic hypotension, Syncope ORPHA:441
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Variegate Porphyria
Tachycardia OMIM:176200
Dystonia 1, Torsion, Autosomal Dominant
Tremor, Torsion dystonia, Abnormal posturing, Blepharospasm, Writer's cramp, Torticollis OMIM:128100
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Ventricular extrasystoles OMIM:612956
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Goiter, Hyperthyroidism OMIM:613239
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Atrial fib... ORPHA:439232
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Illum Syndrome
Bradycardia OMIM:208155
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglyce... ORPHA:324575
Glutamine Deficiency, Congenital
Neonatal death, Bradycardia OMIM:610015
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Syncope, Tachy... ORPHA:276556
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia OMIM:614407
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia, Goiter, Hyperthyroidism OMIM:188580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia ORPHA:276608
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Atrioventricular block, Sinus bradycardia, Syncope OMIM:616812
Sheehan Syndrome
Panhypopituitarism, Palpitations, Adrenocorticotropin deficient adrenal insufficiency, Orthostati... ORPHA:91355
Sporadic Infantile Bilateral Striatal Necrosis
Dystonia, Gait ataxia, Abnormal posturing, Chorea, Gait disturbance, Resting tremor, Bradykinesia... ORPHA:225147
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Ventricular extrasystoles, Tachycardia, Syncope OMIM:192445
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Bradycardia, Third degree atrioventricular block ORPHA:40366
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Decreased circulating follicle stimulating ... ORPHA:226307
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Bradycardia OMIM:614653
Hyperthyroidism, Nonautoimmune
Tachycardia, Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Myotonic Dystrophy 2
Palpitations, Tachycardia, Elevated circulating follicle stimulating hormone level, Hypogonadism,... OMIM:602668
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Co... OMIM:171420
Necrotizing Enterocolitis
Hypotension, Bradycardia, Shock ORPHA:391673
Glossopharyngeal Neuralgia
Bradycardia, Jaw claudication, Syncope ORPHA:221098
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia OMIM:605676
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Goiter, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concen... OMIM:218700
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Decreased circulating follicle stimulating hormone concentration, Central hypothyroidis... ORPHA:453533
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Brad... ORPHA:94093
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Hypopituitarism, Myocardial i... ORPHA:449285
Sepsis In Premature Infants
Hypotension, Tachycardia, Bradycardia ORPHA:90051
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Tachycardia, Syncope ORPHA:464453
Vici Syndrome
Growth delay, Abnormal posturing, Abnormality of the thymus, Failure to thrive OMIM:242840
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Arrhythmia, Cardiomyopathy, Abnormal left ventricular f... ORPHA:892
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
Paragangliomas 4
Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren... OMIM:115310
Encephalitis Lethargica
Bradycardia ORPHA:83600
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Proximal Spinal Muscular Atrophy
Bradycardia ORPHA:70
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Delayed puberty, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardia... OMIM:614921
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Carney Triad
Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ... ORPHA:139411
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia ORPHA:263455
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia OMIM:145600
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Pheochromocytoma
Pheochromocytoma, Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Co... OMIM:171300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Ventricular tachycardia, Atrioventricular block, Ventricular fibrillation, Tachycardi... ORPHA:26793
Sandifer Syndrome
Torticollis, Abnormal posturing ORPHA:71272
Bohring-Opitz Syndrome
Bradycardia ORPHA:97297
Hydroxykynureninuria
Hypotension, Tachycardia ORPHA:79155
Stiff-Person Syndrome
Diabetes mellitus, Tachycardia, Hypertension OMIM:184850
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Double Outlet Right Ventricle
Aplasia/Hypoplasia of the thymus, Pulmonic stenosis, Heart murmur, Tachycardia, Hypoparathyroidism ORPHA:3426
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Hypertrophic cardiomyopathy ORPHA:368
Tularemia
Tachycardia ORPHA:3392
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Mercury Poisoning
Hypotension, Tachycardia, Hypertension ORPHA:330021
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimuation test ORPHA:485405
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Congenital Fibrinogen Deficiency
Tachycardia, Internal hemorrhage ORPHA:335
Relapsing Fever
Hypotension, Tachycardia, Epistaxis ORPHA:91547
Porphyria Variegata
Hypertension, Tachycardia, Inappropriate antidiuretic hormone secretion ORPHA:79473
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Serotonin Syndrome
Hypotension, Tachycardia, Hypertension ORPHA:43116
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Resting tremor, Bradykinesia, Writer'... OMIM:128230
Bacterial Toxic-Shock Syndrome
Hypotension, Tachycardia, Shock, Myocarditis, Capillary leak ORPHA:36234
Eisenmenger Syndrome
Ventricular arrhythmia, Palpitations, Right ventricular failure, Hepatojugular reflux, Supraventr... ORPHA:97214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Tachycardia, Orthostatic hypotension OMIM:223900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmonary arterial hypertension, ... ORPHA:505248
Renal Nutcracker Syndrome
Tachycardia, Orthostatic hypotension, Syncope ORPHA:71273
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Cholera
Hypotension, Tachycardia, Hypovolemic shock ORPHA:173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Tachycardia, Syncope ORPHA:98849
Familial Dysautonomia
Hypertension, Tachycardia, Orthostatic hypotension ORPHA:1764
Graft Versus Host Disease
Tachycardia ORPHA:39812
Acute Intermittent Porphyria
Tachycardia, Hypertension ORPHA:79276
45,X/46,Xy Mixed Gonadal Dysgenesis
Increased circulating gonadotropin level, Hypothyroidism, Streak ovary, Delayed puberty, Decrease... ORPHA:1772
Mirizzi Syndrome
Tachycardia ORPHA:521219
Truncus Arteriosus
Adrenocortical abnormality, Aortic regurgitation, Abnormal heart valve physiology, Hypoplasia of ... ORPHA:3384
Plague
Hypotension, Arrhythmia, Tachycardia, Hematemesis ORPHA:707
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Lethargy, Choreoathetosis, Dystonia OMIM:233910
Autosomal Dominant Dopa-Responsive Dystonia
Postural tremor, Gait ataxia, Hypothyroidism, Ataxia, Bradykinesia, Torticollis, Impaired vibrati... ORPHA:98808
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Tricuspid regurgitation, Tachycardia, Pulmonary arterial hypertension,... ORPHA:99125

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 Gch1

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 Gch1.

No publications found that use IMPC mice or data for Gch1.

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MGI Allele Allele Type Produced
Gch1em2(IMPC)H Exon Deletion Mice
Gch1em1(IMPC)H Exon Deletion Mice

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