Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
peroxisomal biogenesis factor 5
Synonyms:
ESTM1,  PTS1R,  Pxr1,  peroxisome biogenesis factor 5

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 Pex5 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 Pex5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pex5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Diaphragmatic paralysis, Respiratory distress, Dysphagia, Respira... OMIM:614399
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Respiratory distress, Ventilator dependence with inability to wean, Dysphagia, R... ORPHA:254875
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Dysphagia, Limb muscle weakness, Respiratory insuffi... OMIM:605809
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Primary microcephaly, Polymicrogyria, Agenesis of corpus callosum, Respiratory distress ORPHA:171703
Short Chain Acyl-Coa Dehydrogenase Deficiency
Increased level of methylsuccinic acid in urine, Respiratory distress, Hepatic steatosis, Failure... ORPHA:26792
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:70589
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress, Failure to thrive OMIM:615595
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness, Fr... OMIM:300580
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Hepatomegaly, Splenomegaly, Ophthalmoplegia, Abnormal pat... ORPHA:77260
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, D... ORPHA:50251
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Muscle weakness, Macroglossia, Respiratory distress, Ventilator dependence with inability to wean... ORPHA:254864
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Dyspnea, Respiratory distress, Respiratory failure, Intrauterine gro... ORPHA:1832
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal cyst, Respiratory distress, Obesity OMIM:615993
Coenzyme Q10 Deficiency, Primary, 8
Muscle weakness, Respiratory distress, Postnatal growth retardation, Abnormal renal corticomedull... OMIM:616733
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Abnormal corpus striatum morphology, Respiratory distress, Respirato... ORPHA:238329
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Failure to thrive... OMIM:245590
Perching Syndrome
Dysphagia, High palate, Respiratory distress OMIM:617055
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Cough, Respiratory failure, Failure to thrive,... OMIM:263000
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respiratory insufficienc... ORPHA:60032
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypoplasia of the corpus callosum, Failure to thrive, Hypospadias, Microcep... OMIM:300934
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Decreased liver function, Failure to thrive, Intrauterine growth retardatio... OMIM:615597
Stt3B-Cdg
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Microcephaly, Micropenis ORPHA:370924
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Hypoplasia of the corpus callosum, Cerebral atrophy, Short stature, Microce... OMIM:618006
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Brown-Vialetto-Van Laere Syndrome 1
Neck muscle weakness, Dyspnea, External ophthalmoplegia, Respiratory distress, Dysphagia, Respira... OMIM:211530
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Respiratory distress, Pelvic girdle muscle weakness, Should... ORPHA:2596
Mitochondrial Complex I Deficiency, Nuclear Type 37
Corpus callosum atrophy, Respiratory distress, Growth delay, Cerebral atrophy, High palate, Cereb... OMIM:619272
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Acute kidney injury, Cough, Respiratory failure requiring assisted... ORPHA:140896
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Progressive microcephaly, Respiratory distress OMIM:614741
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Dysphagia, Pelvic girdle muscle weakness, Shoulder girdle muscle weakness, Gowers sign, ... OMIM:603511
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hyperphosphaturia, Exertional dyspnea, Renal Fanconi syndrome, Increased he... OMIM:220110
Cryptosporidiosis
Wheezing, Respiratory distress, Gastrointestinal obstruction, Dysphagia, Growth delay, Cough, Abn... ORPHA:1549
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough, Proximal muscle weakness, Triceps weakness, Gowers sign, Mi... ORPHA:86812
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Muscle weakness, Macroglossia, Respiratory distress, Elevated circulating alanine aminotransferas... ORPHA:308552
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Respiratory distress, Hypoplasia of the corpus callosum, Dysphagia, ... ORPHA:89844
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Cerebral atrophy, Gastroesophageal reflux, Failure to thrive, Microcephaly OMIM:618426
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Basal ganglia gliosis, Respiratory distress OMIM:604377
Multiple Acyl-Coa Dehydrogenase Deficiency
Muscle weakness, Pachygyria, Respiratory distress, Renal cortical cysts, Glutaric aciduria, Hepat... OMIM:231680
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Growth delay, Cough, Gastr... ORPHA:2414
Diaphanospondylodysostosis
Multiple renal cysts, Myelomeningocele, Respiratory distress, Cleft palate ORPHA:66637
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Muscle weakness, Sleep apnea, Hypoventilation, Respiratory distress, Exerti... ORPHA:98915
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal periventricular white matter morphology, Respiratory distress, Respiratory insufficiency... ORPHA:1145
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Cerebral white matter atrophy, Respiratory distress, High palate, ... OMIM:615042
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Macrovesicular hepatic steatosis, Respiratory insufficiency, Renal insufficiency, ... OMIM:608836
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Myotonic Dystrophy 1
Muscle weakness, Respiratory distress, Dysphagia, Cerebral atrophy, Cholelithiasis, Facial diplegia OMIM:160900
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Dysphagia, Cough, Weight loss, Upper airway obstruction, Stridor, ... ORPHA:142
Agnathia-Otocephaly Complex
Respiratory distress, Aglossia, Holoprosencephaly, Tracheomalacia, Microglossia, Cleft palate, Ag... OMIM:202650
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Microcephaly, Respiratory distress, Failure to thrive ORPHA:261304
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Mu... ORPHA:70474
Congenital Myasthenic Syndrome
Neck muscle weakness, Generalized muscle weakness, High palate, Stridor, Limb-girdle muscle weakn... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Generalized muscle weakness, High palate, Stridor, Limb-girdle muscle weakn... ORPHA:98914
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Cerebral white matter atrophy, Abnormal periventricular white matt... ORPHA:329178
Succinic Acidemia
Respiratory distress OMIM:600335
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Failure to thrive, Pancreatitis, Renal insuffic... ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay, Hepatomegaly, Pancreatitis, Renal insufficiency, Renal tubula... ORPHA:289916
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Respiratory distress, Respiratory insufficiency, Esopha... ORPHA:367
Malaria
Acute kidney injury, Respiratory distress ORPHA:673
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:608799
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Intestinal malrotation, Aganglionic megacolon, Asplenia, Hydronephrosis, An... ORPHA:210122
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia, Microglossia, High palate OMIM:612776
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Neonatal respiratory distress, N... OMIM:610921
Congenital Laryngeal Web
Stridor, Respiratory distress, Short stature ORPHA:2374
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Exertional dyspnea, Lower limb muscle weakness, Respiratory insufficiency, Generaliz... ORPHA:365
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Growth delay, High, narrow palate, Respiratory failure, Failure to... ORPHA:2707
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Neurogenic Arthrogryposis Multiplex Congenita
Lower limb muscle weakness, Respiratory distress, Respiratory insufficiency due to muscle weaknes... ORPHA:1143
Diaphanospondylodysostosis
Respiratory distress, Enlarged kidney, Cystic renal dysplasia, Respiratory insufficiency, Tracheo... OMIM:608022
Mercury Poisoning
Dyspnea, Respiratory distress, Acute kidney injury, Interstitial pneumonitis, Abnormal cerebral w... ORPHA:330021
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Respiratory distress, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:226313
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Holoprosencephaly, Microglossia, Hypoplasia of penis, Agenesis of corpus ca... ORPHA:990
Multiple Carboxylase Deficiency
Organic aciduria, Tachypnea, Limb muscle weakness, Respiratory distress ORPHA:148
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Growth delay, Weight loss, Organic aciduria ORPHA:79242
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Respiratory distress, Steatorrh... OMIM:260400
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Microcephaly, Respiratory distress, Failure to thrive OMIM:618201
Infantile Krabbe Disease
Neck muscle weakness, Muscle weakness, Hypointensity of cerebral white matter on MRI, Abnormal pe... ORPHA:206436
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress ORPHA:240085
Idiopathic Neonatal Atrial Flutter
Tachypnea, Large for gestational age, Respiratory distress ORPHA:45452
Avian Influenza
Dyspnea, Respiratory distress, Elevated hepatic transaminase, Acute kidney injury, Pleural effusi... ORPHA:454836
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen d... OMIM:610978
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress ORPHA:1423
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Respiratory distress ORPHA:2140
Thyroid Lymphoma
Dyspnea, Respiratory distress, Dysphagia, Upper airway obstruction, Stridor ORPHA:97285
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Abnormality of the hepatic vasculature, Restrictive ventilatory defect, Dy... ORPHA:210136
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Respiratory failure, Tachypnea, Hyp... ORPHA:178320
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Intestinal malrot... ORPHA:1199
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Microcephaly, Respiratory distress, Failure to thrive ORPHA:927
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Episodic tachypn... ORPHA:348
Brain-Lung-Thyroid Syndrome
Cavum septum pellucidum, Recurrent pneumonia, Megacystis, Respiratory distress, Growth delay, Ele... ORPHA:209905
Toxic Epidermal Necrolysis
Dysuria, Restrictive ventilatory defect, Intestinal perforation, Elevated hepatic transaminase, R... ORPHA:537
Campomelic Dysplasia
Apnea, Neonatal short-limb short stature, Respiratory distress, Tracheobronchomalacia, Hydronephr... OMIM:114290
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Pneumonia, H... ORPHA:26793
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Cryptococcosis
Peritonitis, Cirrhosis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Cerebr... ORPHA:1546
Pfeiffer Syndrome Type 3
Horseshoe kidney, Respiratory distress, Intestinal malrotation, Tracheomalacia, Aqueductal stenos... ORPHA:93260
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Dysphagia, Decreased body weight, Hepatomegaly, Hepatic failure, Spl... OMIM:608013
Interstitial Lung And Liver Disease
Cirrhosis, Dyspnea, Elevated hepatic transaminase, Hepatic steatosis, Cough, Aminoaciduria, Respi... OMIM:615486
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Decreased pulmonary function, Reversible renal failure, ... ORPHA:90051
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress, Aplasia/Hypoplasia of the tongue ORPHA:2759
Q Fever
Muscle weakness, Hematuria, Elevated hepatic transaminase, Respiratory distress, Pleural effusion... ORPHA:781
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Hypoplasia of the corpus callosum, Respiratory distress, Short stature OMIM:617102
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Macroglossia, Respiratory distress, Enlarged kidney, Focal segmental glomeru... OMIM:617303
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Glossitis, Respiratory distress, Growth delay, Cerebral atrophy, Pulmonary a... ORPHA:79282
Odontochondrodysplasia 1
Nephronophthisis, Respiratory distress, Mesomelic short stature, Polycystic kidney dysplasia, Sho... OMIM:184260
Neuromuscular Oculoauditory Syndrome
Multiple renal cysts, Agenesis of corpus callosum, Respiratory distress, Reduced renal corticomed... OMIM:618733
Moebius Syndrome
Respiratory distress, Dysphagia, Bifid uvula, High palate, Facial diplegia, Micropenis OMIM:157900
Mitochondrial Dna-Associated Leigh Syndrome
Muscle weakness, Apnea, Focal T2 hyperintense basal ganglia lesion, Episodic respiratory distress... ORPHA:255210
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Hypoplasia of the corpus callosum, Microcephaly, Respiratory distress, Failure to thrive ORPHA:544503
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Tracheomalacia, Aqueductal stenosis, Anal atresia, ... ORPHA:93259
Primary Dystonia, Dyt4 Type
Dysphagia, Eunuchoid habitus, Respiratory distress ORPHA:98805
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Wheezing, Dyspnea, Respiratory distress, Morpho... ORPHA:141127
Tetrasomy 5P
Respiratory distress, Lipoma of corpus callosum, Postnatal growth retardation, Failure to thrive,... ORPHA:3309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Interstitial pneumonitis, Recurrent gastroen... ORPHA:37042
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Severe short stature, Multicystic kidney dysplas... ORPHA:3015
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Ketonuria OMIM:251110
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Cleft palate, Hypospadias, M... OMIM:217980
Oromandibular Dystonia
Dysphagia, Respiratory distress, Weight loss ORPHA:93958
Spinocerebellar Ataxia, X-Linked 3
Muscle weakness, Episodic respiratory distress, Dysphagia, Gastroesophageal reflux, Episodic hypo... OMIM:301790
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Tetanus
Respiratory distress, Elevated urinary norepinephrine, Dysphagia, Elevated urinary epinephrine, T... ORPHA:3299
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Short stature OMIM:617180
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Growth delay, Cere... ORPHA:17
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Ketonuria OMIM:251100
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Horseshoe kidney, Respiratory distress, Biliary atresia, Abdominal situs... OMIM:306955
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Microlissencephaly-Micromelia Syndrome
Secondary microcephaly, Failure to thrive, Respiratory distress, Lissencephaly ORPHA:50810
Idiopathic Hypereosinophilic Syndrome
Muscle weakness, Dyspnea, Elevated hepatic transaminase, Respiratory distress, Pleural effusion, ... ORPHA:3260
Tularemia
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:3392
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Respiratory distress, Umbilical hernia, Abnormality of the pancreas, Cleft palate,... ORPHA:1555
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory distress, Hypoplasia of penis, Growth delay, Severe short stature, Cleft pal... ORPHA:2554
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Stridor, Respiratory distress, Recurrent gastroenteritis, Enlarged kidney, Urinary ... ORPHA:505248
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Intrahepatic cholestasis with episodic jaund... ORPHA:333
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Esophageal atresia, Short stature, Cleft palate, Microcephaly, Progressive ... OMIM:610536
Diamond-Blackfan Anemia 10
Respiratory distress, Growth delay, Ectopic kidney, Short stature, Cleft palate OMIM:613309
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Respiratory distress, Aplasia/Hypoplasia of the gallbladder, B... ORPHA:2255
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Anal atresia... OMIM:300968
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Hypoplasia of the corpus callosum, Pulmonary arterial hypertension, Microce... ORPHA:2519
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pyloric stenosis, Cholelithiasis, Biliary hyperplasia, Hepatomegaly, Postna... ORPHA:83617
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Severe short stature, Decreased body weight, Primary... ORPHA:1051
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Respiratory distress, Hydrocephalus, Anteriorly placed anus, Agenesis of corpus ca... OMIM:123790
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Gastrointestinal inflammation, Dyspnea, Respiratory distress, Hydr... ORPHA:79404
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Neonatal respiratory distress, Neonatal death, Respiratory failure, Failure to th... OMIM:265120
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia, High palate ORPHA:314655
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Umbilical hernia, Disproportionate short-trunk short statur... OMIM:156550
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Cavum septum pellucidum, Respiratory distress, Hypoplasia of the corpus callosum, Hepatomegaly, H... OMIM:619383
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Renal hypoplasia, Neonatal death, Respiratory failure, Intrauterine growth ... OMIM:266910
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Respiratory distress, Prolonged neonatal jaundice, Jaundice, Microscop... OMIM:274150
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Ethylene Glycol Poisoning
Renal insufficiency, Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Renal t... ORPHA:31826
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Respiratory distress, Failure to thrive in infancy, Splenomegaly OMIM:612852
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Cholestasis, Hepatitis, Hepatic failure ORPHA:292
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Hydrocephalus, Absent septum pellucidum, Abnormal penis morphology... ORPHA:2556
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Hereditary Angioedema Type 1
Intestinal edema, Dyspnea, Abnormal soft palate morphology, Respiratory distress, Inspiratory str... ORPHA:100050
Meier-Gorlin Syndrome 1
Respiratory distress, High palate, Gastroesophageal reflux, Birth length less than 3rd percentile... OMIM:224690
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Cocaine Intoxication
Wheezing, Hematuria, Respiratory distress, Acute kidney injury, Proteinuria, Gastrointestinal inf... ORPHA:90068
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Disorder Of Deglycosylation
Central sleep apnea, Elevated hepatic transaminase, Respiratory distress, Decreased body weight, ... OMIM:615273
Schinzel-Giedion Syndrome
Macroglossia, Respiratory distress, Annular pancreas, Hypoplasia of the corpus callosum, Dysphagi... ORPHA:798
Auriculocondylar Syndrome
Respiratory distress, Hamartoma of tongue, Cleft palate, Microglossia, Glossoptosis, Snoring, Bif... ORPHA:137888
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Hepatomegaly, Pulmonary venous hypertensi... ORPHA:1329
Biotinidase Deficiency
Apnea, Respiratory distress, Organic aciduria, Limb muscle weakness, Hyperventilation ORPHA:79241
Adnp Syndrome
Respiratory distress, Aspiration, Hypoplasia of the corpus callosum, Cerebral atrophy, Gastroesop... ORPHA:404448
Prader-Willi Syndrome Due To Translocation
Respiratory distress, High palate, Anterior pituitary hypoplasia, Obesity, Cerebral cortical atro... ORPHA:177907
Tuberous Sclerosis Complex
Respiratory distress, Hepatic cysts, Renal angiomyolipoma, Cortical dysplasia, Respiratory failur... ORPHA:805
Bacterial Toxic-Shock Syndrome
Peritonitis, Renal insufficiency, Respiratory distress, Pneumonia, Glomerulonephritis, Hepatitis,... ORPHA:36234
Nocardiosis
Peritonitis, Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pne... ORPHA:31204
Gitelman Syndrome
Muscle weakness, Respiratory distress, Focal segmental glomerulosclerosis, Nocturia, Renal potass... ORPHA:358
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Neonatal short-trunk short stature, Cleft p... OMIM:183900
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Pachyonychia Congenita
Oral leukoplakia, Respiratory distress, Failure to thrive ORPHA:2309
Alternating Hemiplegia Of Childhood
Gastrointestinal dysmotility, Apnea, Respiratory distress, Abnormality of the gastrointestinal tr... ORPHA:2131
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Esophagitis, Dyspnea, Cardiorespiratory arrest, Respi... ORPHA:3342
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Respiratory distress OMIM:271225
Coccidioidomycosis
Peritonitis, Respiratory distress, Cough, Exudative pleural effusion, Pneumonia, Pleural empyema,... ORPHA:228123
Osteoglophonic Dysplasia
Respiratory distress, Chordee, Rhizomelia, High palate, Failure to thrive, Hypospadias OMIM:166250
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Respiratory distress, Hepatomegaly, Short stature, Splenomegaly OMIM:617088
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Microcephaly, High palate, Respiratory distress ORPHA:438216
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Postnatal growth retardation, Respiratory i... ORPHA:536467
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Aminoaciduria, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Polycystic kidney ... OMIM:214110
Rhizomelic Chondrodysplasia Punctata, Type 5
Muscle weakness, Growth delay, Asthma, Short stature, Microcephaly OMIM:616716
Listeriosis
Peritonitis, Respiratory distress, Acute kidney injury, Pyelonephritis, Splenic abscess, Pneumoni... ORPHA:533
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Gastrointestinal inflammation, Intestinal perforation, Hematuria, Elevated hepatic trans... ORPHA:95455
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Dysphagia, Gastroesophageal reflux, Nasal flaring, Asthma, Pelvic ki... ORPHA:466943
Colchicine Poisoning
Renal insufficiency, Cardiorespiratory arrest, Respiratory distress, Oliguria ORPHA:31824
Doors Syndrome
Narrow palate, Respiratory distress, Arrhinencephaly, Sirenomelia, High palate, Gastroesophageal ... ORPHA:79500
Infantile Refsum Disease
Hepatomegaly, Progressive muscle weakness, Facial palsy, Short stature, Failure to thrive ORPHA:772
Ulbright-Hodes Syndrome
Respiratory distress, Renal hypoplasia, Abnormal penis morphology, Severe intrauterine growth ret... ORPHA:3404
Cleidocranial Dysplasia
Moderately short stature, Narrow palate, Respiratory distress, Neonatal respiratory distress, Cle... OMIM:119600
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal insufficiency, Respiratory distress, Focal segmental glomerulosclerosis, Decreased glomerul... OMIM:614748
Plague
Muscle weakness, Inflammation of the large intestine, Glossitis, Respiratory distress, Hematemesi... ORPHA:707
Stüve-Wiedemann Syndrome
Apnea, Respiratory distress, Asthma, Short stature, Intrauterine growth retardation, Smooth tongue ORPHA:3206
Eisenmenger Syndrome
Muscle weakness, Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular... ORPHA:97214
Rubinstein-Taybi Syndrome 1
Narrow palate, Respiratory distress, Growth delay, High palate, Aganglionic megacolon, Postnatal ... OMIM:180849
Leptospirosis
Respiratory distress, Acute kidney injury, Pleural effusion, Cough, Cellular urinary casts, Hepat... ORPHA:509
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Respiratory distress, Branchial cyst, Gastrointestinal hemorrh... ORPHA:508488
Arboleda-Tham Syndrome
Intrauterine growth retardation, Microcephaly, Neonatal respiratory distress, Respiratory distress OMIM:616268
Zellweger Syndrome
High palate, Pyloric stenosis, Respiratory insufficiency, Multicystic kidney dysplasia, Hepatomeg... ORPHA:912
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Encephalomalacia, Hepatic ... ORPHA:51608
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver physiology, Chroni... ORPHA:64
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Delayed pube... ORPHA:480880
Kasabach-Merritt Syndrome
Hepatic hemangioma, Respiratory distress, Hypopnea ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Isolated Arrhinia
Respiratory distress ORPHA:1134
Scimitar Syndrome
Pulmonary arterial hypertension, Cough, Respiratory distress, Pneumothorax ORPHA:185
Pmm2-Cdg
Multiple renal cysts, Elevated circulating growth hormone concentration, Elevated hepatic transam... ORPHA:79318
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Exertional dyspnea, Respiratory failure requiring assisted ventilation, Hep... ORPHA:99125
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature ORPHA:44
Peroxisome Biogenesis Disorder 2B
High palate, High, narrow palate OMIM:202370

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 Pex5

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 Pex5.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TRIP8b is required for maximal expression of HCN1 in the mouse retina. PloS one (January 2014) Pex5ltm1(KOMP)Vlcg PMC3883711
Regulation of axonal HCN1 trafficking in perforant path involves expression of specific TRIP8b isoforms. PloS one (February 2012) Pex5ltm1(KOMP)Vlcg PMC3283722
TRIP8b splice forms act in concert to regulate the localization and expression of HCN1 channels in CA1 pyramidal neurons. Neuron (May 2011) Pex5ltm1(KOMP)Vlcg PMC3107038

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MGI Allele Allele Type Produced
Pex5tm380174(L1L2_Bact_P) Targeting vectors

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