Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
autophagy related 5
Synonyms:
Paddy,  3110067M24Rik,  Apg5l,  2010107M05Rik

IMPC Data Collections

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

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.

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 Atg5 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 Atg5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 25
OMIM:617584

The table below shows human diseases predicted to be associated to Atg5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Increased mitochondrial number, Palpitations, T-wave inversion, Arrhythmia, Ventr... ORPHA:263297
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Muscular Dystrophy, Cardiac Type
Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H... ORPHA:90065
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Dysphagia ORPHA:94125
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Nathalie Syndrome
Abnormal EKG OMIM:255990
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... OMIM:607554
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Tinnitus, Abnormal circulating renin, Gluc... ORPHA:404
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Hearing impairment, Pituitary prolactin cell adenoma, Increa... ORPHA:300385
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Dysphagia, Abnormal EKG ORPHA:1177
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia OMIM:201910
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Gitelman Syndrome
Prominent U wave, Polydipsia, Abnormal T-wave, Palpitations, ST segment depression, Salt craving,... ORPHA:358
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Familial Hyperaldosteronism Type Iii
Tinnitus, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyp... ORPHA:251274
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, First degree atrioventric... OMIM:310300
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Gonadotr... ORPHA:231720
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Primary Unilateral Adrenal Hyperplasia
Tinnitus, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased c... ORPHA:231580
Pigmented Nodular Adrenocortical Disease, Primary, 4
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... OMIM:615830
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Tinnitus, Abnormal circulating renin, Hyperaldosteronism, Adrenal hyperplasia ORPHA:369929
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, ST segment depression, ... ORPHA:466650
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren... ORPHA:90791
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... ORPHA:95494
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ... ORPHA:90790
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion ORPHA:289601
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Elevated circulating luteinizing hormone level, Abnormal earlobe morphology, Abnorm... ORPHA:95699
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogon... OMIM:612702
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Adrenal gland agenesis OMIM:611812
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Hyperechogenic pancreas, Hyp... ORPHA:456312
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level ORPHA:96181
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Igg4-Related Thyroid Disease
Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol... ORPHA:64744
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Brugada Syndrome 4
Atrial fibrillation, Syncope, Shortened QT interval OMIM:611876
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Abnormal EKG, Elevated circulating creatinine concentration, Syncope, Orthos... ORPHA:230
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... OMIM:201810
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Giant cell hepatitis, Cholestatic liver disease, Elevated circulating hepatic trans... OMIM:208085
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased... OMIM:202010
7Q31 Microdeletion Syndrome
Low-set ears, Childhood onset sensorineural hearing impairment, Enlarged cochlear aqueduct, Hypop... ORPHA:251061
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Adrenocorticotropin deficient adrenal ins... ORPHA:2965
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Al Amyloidosis
Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Abnormal EKG, Hy... ORPHA:85443
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I... OMIM:113650
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Sheehan Syndrome
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:91355
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Rett Syndrome
Stereotypical hand wringing, Bruxism, Prolonged QTc interval, Abnormal T-wave OMIM:312750
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Abnormality of the anterior pituitary, Abnormal pinna morphology, Posterior pituitary hypoplasia ORPHA:75389
Pituitary Deficiency Due To Rathke Cleft Cysts
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... ORPHA:91350
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland, Elevated circulating hepatic transaminase concentration OMIM:617395
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Dysphagia, Abnormal EKG ORPHA:480864
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced left ventricular ejection fraction, Right bundle branch block, Dysphagia, Abnormal EKG ORPHA:268
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C... ORPHA:860
Cog2-Cdg
Small pituitary gland, Decreased liver function ORPHA:435934
Craniopharyngioma
Hearing impairment, Increased circulating prolactin concentration, Vertigo, Hypopituitarism, Hypo... ORPHA:54595
Apert Syndrome
Ovarian neoplasm, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorin... ORPHA:87
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... OMIM:620303
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Tetraamelia Syndrome 1
Low-set ears, Asplenia, Adrenal gland agenesis OMIM:273395
Hydrolethalus Syndrome 1
Low-set ears, Adrenal gland dysgenesis, Abnormal pinna morphology, Accessory spleen OMIM:236680
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension ORPHA:231625
Joubert Syndrome 38
Low-set ears, Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth ho... OMIM:619476
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Hepatosplenomegaly, Portal hypertension, Cryptorchidism, Sensorineural hearin... OMIM:609136
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism OMIM:614880
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Aggre... ORPHA:2131
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Vertigo, Small pituitary gland, Severe sensorineural hearing impairment, Abnormal pinna morphology OMIM:614195
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT... ORPHA:96253
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre... ORPHA:1686
Diaphanospondylodysostosis
Low-set ears, Abnormal liver lobulation OMIM:608022
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas... ORPHA:99889
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Noonan Syndrome
Low-set, posteriorly rotated ears, Delayed menarche, Aplasia of the semicircular canal, Abnormali... ORPHA:648
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Mosaic Trisomy 9
Low-set ears, Asplenia, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Ectopic anterior pituitary gland OMIM:620558
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Prolonged QRS complex, Ischemic stroke, Subarachnoid he... ORPHA:90068
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Recurrent otitis media, Decreased circulatin... ORPHA:293978
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Doors Syndrome
Low-set ears, Congenital hypothyroidism, Atresia of the external auditory canal, Adrenal hyperplasia ORPHA:79500
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Hearing impairment, Absence of secondary sex ch... ORPHA:2232
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Prolonged QT interval,... OMIM:170390
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Low-set, posteriorly rotated ears, Anteri... ORPHA:138
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Hearing impairment, Abnormal pituitary gland morphology ORPHA:314621
Congenital Heart Defects, Multiple Types, 9
Left axis deviation, Pulmonic stenosis, Miscarriage OMIM:620294
Autoimmune Polyendocrinopathy Type 3
Thymoma, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Graves disease, Hepatitis, A... ORPHA:227982
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Pancreatiti... OMIM:620371
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Autoimmune Polyendocrinopathy Type 4
Thymoma, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Hepatitis... ORPHA:227990
Glycogen Storage Disease Ii
Sinus tachycardia, Shortened PR interval, Subarachnoid hemorrhage, Right axis deviation, Wolff-Pa... OMIM:232300
Charge Syndrome
Low-set ears, Cupped ear, Aplasia/Hypoplasia of the thymus, Parathyroid hypoplasia, Decreased res... OMIM:214800
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Sarcoidosis
Enlarged lacrimal glands, Hepatic failure, Decreased liver function, Parotitis, Enlargement of pa... ORPHA:797
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echogenicity, He... OMIM:619991
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
Hamamy Syndrome
Prolonged QRS complex, Mitral regurgitation OMIM:611174
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Oral-pharyngeal dysphagia, Left ventricular systolic dysfunction, Prolong... ORPHA:273
Igg4-Related Kidney Disease
Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing ... ORPHA:449395
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Pancreatitis, Cholangitis, Enlarge... ORPHA:449563
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Elevated circulating t... ORPHA:79318
Woodhouse-Sakati Syndrome
Abnormal T-wave OMIM:241080
Woodhouse-Sakati Syndrome
Abnormal T-wave ORPHA:3464
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Cryptorchidism, Hypothyroidism... ORPHA:438213
Spinocerebellar Ataxia, Autosomal Recessive 25
OMIM:617584

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 Atg5

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 Atg5.

No publications found that use IMPC mice or data for Atg5.

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