banner
Genes Phenotypes Help, News, Blog

Gene: Pex5 MGI:1098808

Log in to follow
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:
Pxr1,  PTS1R,  ESTM1,  peroxisome biogenesis factor 5

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Jaundice, Cleft palate, Aminoaciduria, Poly... OMIM:214110
Infantile Refsum Disease
Hepatomegaly, Short stature, Facial palsy, Progressive muscle weakness, Failure to thrive ORPHA:772
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Asthma, Short stature, Muscle weakness OMIM:616716
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Short stature, Malabs... ORPHA:912
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature ORPHA:44
Peroxisome Biogenesis Disorder 2B
High, narrow palate, High palate OMIM:202370

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn... ORPHA:141152
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Poor head control, Facial palsy, Diaphragmatic paralysis, Respiratory insuf... OMIM:614399
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... OMIM:605809
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness,... ORPHA:254875
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Bulbar palsy, Sudden episodic apnea, Respiratory insufficiency due to muscl... OMIM:254210
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Facial palsy, Respiratory insufficiency due to muscle weakne... OMIM:300580
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, W... ORPHA:50251
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Macroglos... ORPHA:254864
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... OMIM:613561
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Ophthalmoplegia, Dysphagia, Cough, Abnormal pat... ORPHA:77260
Bardet-Biedl Syndrome 16
Respiratory distress, Renal insufficiency, Short stature, Stage 5 chronic kidney disease, Renal c... OMIM:615993
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Int... ORPHA:26792
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum ORPHA:171703
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Abnormal renal cor... OMIM:616733
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Dysphagia, Neonatal death, Pulmonary arterial hypertension, Int... OMIM:619751
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Generalized muscle weakness, Respiratory insufficiency ORPHA:238329
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation, Median cleft... ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransf... OMIM:615595
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive, Tubulointerstitia... OMIM:263000
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary... OMIM:613490
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, External ophthalmoplegia, Weight loss, Aminoaciduria, Proximal tu... OMIM:612075
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Distal muscle weakness, Diaphragmatic paralysis, Paradoxical respiration, W... OMIM:620011
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Bulbar palsy, Tongue at... OMIM:211530
Perching Syndrome
Respiratory distress, High palate, Dysphagia OMIM:617055
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Weak... ORPHA:2596
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance OMIM:619466
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Ga... ORPHA:2414
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Multiple renal cysts, Cleft palate ORPHA:66637
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypospadias OMIM:300934
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Micropenis, Failure to thrive ORPHA:370924
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Proximal muscle weakness, Dyspnea, Limb-girdle muscle weakness, Gowers sign... ORPHA:86812
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Micropenis, Failure to thrive OMIM:615597
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly, Organic aciduria OMIM:614741
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Proximal ... ORPHA:308552
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Weight loss, ... ORPHA:142
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Poor head control, Distal m... ORPHA:98915
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable we... ORPHA:596
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... OMIM:220110
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Portal hype... ORPHA:367
Succinic Acidemia
Respiratory distress OMIM:600335
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal... OMIM:231680
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Failure to thrive, Pancrea... ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Poor head control, Hypospadias, Growth delay, High palate, Pulmonary arteri... OMIM:619272
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Poor head control, Tachypnea, Respiratory insufficiency, Resp... OMIM:614299
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Growth delay,... ORPHA:289916
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Agenesis of... ORPHA:89844
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Distal muscle weakness, Proximal muscle weakness, Generalized muscle weakne... ORPHA:1145
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Short stature, Ophthalmoplegia, Renal hypoplasia, 3-Methylglu... ORPHA:254913
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Proximal muscle weakness, Progressive muscle weakness, Respiratory failure,... OMIM:620166
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Upper limb muscle weakness, Respiratory insufficiency due to muscle weaknes... ORPHA:1143
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:261304
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Cleft palate, Glossoptosis, Microglossia OMIM:614669
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Congenital Myasthenic Syndrome
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Bulbar palsy, Poor head control, Sudden episodic apnea, Proximal muscle weakness, Intermittent ep... ORPHA:98914
Oculopharyngodistal Myopathy 1
Respiratory distress, Distal muscle weakness, Facial palsy, Hypercapnia, Proximal muscle weakness... OMIM:164310
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Neonatal respiratory distress, High palate, Respiratory distress OMIM:615042
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... ORPHA:210122
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Progressive muscle... OMIM:256810
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
Myotonic Dystrophy 1
Respiratory distress, Facial diplegia, Dysphagia, Cholelithiasis, Muscle weakness OMIM:160900
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... ORPHA:454836
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Upper airway obstruction, High palate, Polysplenia, Microglossia OMIM:612776
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Splenomegaly, High, narrow pal... OMIM:608799
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, P... OMIM:615512
Agnathia-Otocephaly Complex
Respiratory distress, Aglossia, Cleft palate, Holoprosencephaly, Tracheomalacia, Microglossia, Ag... OMIM:202650
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux OMIM:619793
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss, Growth delay, Organic aciduria ORPHA:79242
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Holoprosencephaly, Microglossia, Agenesis of corpus ca... ORPHA:990
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Shwachman-Diamond Syndrome 1
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Neonatal respiratory distress,... OMIM:260400
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, High, narrow palate, Hydrocephalus, Submucous cleft hard palate, Anteriorly... OMIM:612863
Esophageal Atresia
Respiratory distress, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, A... ORPHA:1199
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Poor head control, Respiratory distress, High palate... ORPHA:329178
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, High, narrow palate, Growth delay, Respiratory failure, Muscle fla... ORPHA:2707
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Urinary incontinence, Hydr... OMIM:616482
Diaphanospondylodysostosis
Respiratory distress, Disproportionate short-trunk short stature, Horseshoe kidney, Respiratory i... OMIM:608022
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Hypospadias, Glandular hypospadias, High palate, Neonatal death, Micropenis... OMIM:300219
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, 4-hydroxyphenylacetic aci... OMIM:617156
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Respiratory distress, ... ORPHA:537
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubul... OMIM:251000
Mercury Poisoning
Respiratory distress, Dyspnea, Generalized muscle weakness, Respiratory failure, Interstitial pne... ORPHA:330021
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Increased urinary glycerol, In... ORPHA:348
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... ORPHA:26793
Infantile Krabbe Disease
Respiratory distress, Poor head control, Cachexia, Respiratory failure, Shoulder girdle muscle we... ORPHA:206436
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Macroglossia, Prolonged neonatal jaundice, Umbil... ORPHA:226313
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Tracheomalacia, Aqueductal stenosis, Horseshoe kidn... ORPHA:93260
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Jaundice, ... ORPHA:90051
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive ORPHA:927
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Dysphagia, Hepatosplenomegaly, Decreased... OMIM:608013
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... ORPHA:95430
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Hepat... ORPHA:781
Moebius Syndrome
Respiratory distress, Facial diplegia, High palate, Dysphagia, Micropenis, Bifid uvula OMIM:157900
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, High palate, Inspiratory stridor, Irregular respiration OMIM:604377
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Aplasia/Hypoplasia of the tongue ORPHA:2759
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Poor head control, Multiple renal cysts, Reduced renal corticomedullary dif... OMIM:618733
Odontochondrodysplasia 1
Respiratory distress, Short stature, Mesomelic short stature, Polycystic kidney dysplasia, Nephro... OMIM:184260
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... ORPHA:93259
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Hypospadias, Short stature, Asthma, Recurren... ORPHA:209905
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Tetrasomy 5P
Respiratory distress, Postnatal growth retardation, Hydrocephalus, High palate, Pulmonary arteria... ORPHA:3309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Failure to thrive in infancy, Pneumonia, Cac... ORPHA:37042
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Dysphagia ORPHA:98805
Congenital Tracheal Stenosis
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal... ORPHA:141127
Radio-Renal Syndrome
Respiratory distress, Multicystic kidney dysplasia, Severe short stature, Dyspnea, High, narrow p... ORPHA:3015
Tetanus
Respiratory distress, Elevated urinary norepinephrine level, Tachypnea, Elevated urinary epinephr... ORPHA:3299
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Peritonitis, Ophthalmoplegia, Limb muscl... ORPHA:1546
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Oromandibular Dystonia
Respiratory distress, Dysphagia, Weight loss ORPHA:93958
Chitayat Syndrome
Respiratory distress, Short stature, Tracheomalacia OMIM:617180
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Short stature, Large for gestational age, Dysp... ORPHA:363705
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Hydrocephalus, Narrow palate, Cleft palate, An... ORPHA:1555
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... ORPHA:340
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Small for gestational age, Rhizomelia, Recurrent pneumonia, Mi... OMIM:607143
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syn... OMIM:617303
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Ketonuria, Methylmalonic aciduria, Failure to thrive OMIM:251110
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Respiratory distress, Cholangitis, Pulmonary embolism, Malabsorpti... ORPHA:3260
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ... ORPHA:333
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, 3-Methylglutaconic aciduria,... OMIM:616271
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cleft palate, Anteriorly placed... OMIM:217980
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Apnea, Dyspnea, Episodic respiratory distress, Lacticaciduria, O... ORPHA:255210
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Crackles, Nonproductive... ORPHA:319213
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndro... ORPHA:79282
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Unilateral renal agenesis, Gastroesophageal re... OMIM:618188
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Organic aciduria, Limb muscle weakness, Hyperventilation ORPHA:79241
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Aqueductal stenosis, Asplenia, Myelomeningocele, Hydrocephalu... OMIM:306955
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Meth... OMIM:251100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, High palate OMIM:619383
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Multicystic kidney dysplasia, Hydroureter, Dysuria, Pne... ORPHA:79404
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature, Bifid uvula, Cleft palate OMIM:606164
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypospadias, Hydrocephalus, Narrow palate, Anteriorly placed anus, High pal... OMIM:123790
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Severe short stature, Hypospadias, Epispadias, Dyspnea... ORPHA:2554
Kniest Dysplasia
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Cleft palate, Trach... OMIM:156550
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Failure to thrive, Small for gestational age, Intesti... ORPHA:2255
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Hepatosplen... ORPHA:505248
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Gowers sign, Ophthalmoplegia, Limb muscle weakness, Axial mus... OMIM:620369
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Hypospadias, Apnea, Methylmalo... ORPHA:17
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Respiratory distress OMIM:612852
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Prolonged neonatal jaundi... OMIM:274150
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Osteogenesis Imperfecta, Type X
Respiratory distress, Short stature, Rhizomelia, Pyloric stenosis, Recurrent pneumonia, Nephrolit... OMIM:613848
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Abnormal soft palate morphology, Dyspnea, Dysphagia, Abno... ORPHA:100050
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Aganglionic megacolon, Xerostomia, Smooth tongue, Dec... ORPHA:1051
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Generalized muscle weakness, Respiratory failure, High palate, Chylothorax,... OMIM:620278
Congenital Enterovirus Infection
Respiratory distress, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure ORPHA:292
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Esophageal atresia, Short stature, Cleft palate OMIM:610536
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Cervical myelopathy, Restrictive ventilatory defect, Neonatal... OMIM:183900
Diamond-Blackfan Anemia 10
Respiratory distress, Short stature, Ectopic kidney, Cleft palate, Growth delay OMIM:613309
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Stillbirth, Neonatal short-limb short stature OMIM:151210
Cocaine Intoxication
Respiratory distress, Proteinuria, Glomerulonephritis, Intestinal perforation, Wheezing, Tachypne... ORPHA:90068
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Pachyonychia Congenita
Respiratory distress, Failure to thrive, Oral leukoplakia ORPHA:2309
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... ORPHA:1329
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Failure to thrive, Biliary hyperplasia, Pyloric stenosis, Pos... ORPHA:83617
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Short stature, Cleft palate, Hydronephrosis, Bifid uvula, Anal atresia OMIM:300968
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, High palate ORPHA:79330
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Japanese Encephalitis
Respiratory distress, Facial palsy, Distal upper limb muscle weakness, Respiratory paralysis, Mus... ORPHA:79139
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Severe short stature, Hypospadias, Epispadias, H... ORPHA:2556
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Facial palsy, Abnormal pattern of respiration, Ophthalmoplegia, T... ORPHA:31826
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Meier-Gorlin Syndrome 1
Respiratory distress, Small for gestational age, Emphysema, Cleft palate, Birth length less than ... OMIM:224690
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Hypospadias, Apnea, Spina bifida, Hydrocepha... OMIM:114290
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
Bacterial Toxic-Shock Syndrome
Respiratory distress, Renal insufficiency, Sinusitis, Glomerulonephritis, Pneumonia, Peritonitis,... ORPHA:36234
Achondroplasia
Respiratory distress, Rhizomelia, Hydrocephalus, Upper airway obstruction, Neonatal short-limb sh... OMIM:100800
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Oral-pharyngeal dysphagia, Hep... OMIM:615273
Arterial Tortuosity Syndrome
Respiratory distress, Hiatus hernia, Dyspnea, Pyloric stenosis, Cardiorespiratory arrest, Respira... ORPHA:3342
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Gastroesophageal reflux, Fa... OMIM:618426
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Micropenis ORPHA:2519
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Obesity, Cleft palate, Lateral ventricle dilatation, High pa... ORPHA:177907
Alternating Hemiplegia Of Childhood
Respiratory distress, Abnormality of the gastrointestinal tract, Apnea, Oral-pharyngeal dysphagia... ORPHA:2131
Schinzel-Giedion Syndrome
Respiratory distress, Hypospadias, Failure to thrive in infancy, Aganglionic megacolon, Recurrent... ORPHA:798
Auriculocondylar Syndrome
Respiratory distress, Hamartoma of tongue, Cleft palate, Glossoptosis, Microglossia, Bifid uvula ORPHA:137888
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Dyspnea OMIM:115197
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Hydrocephalus, Macroglossia, Pleural effusion, Enlarged kidney OMIM:261740
Coccidioidomycosis
Respiratory distress, Renal insufficiency, Pneumonia, Abnormality of the spleen, Peritonitis, Hyd... ORPHA:228123
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Hydrocephalus, Respi... ORPHA:536467
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias OMIM:620306
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Proteinuria, Urinary incontinence, Decreased urin... ORPHA:358
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Jaundice, Cleft palate, Aminoaciduria, Poly... OMIM:214110
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Failure to thrive, Hypospadias, Small for gestational age... OMIM:180849
Adnp Syndrome
Respiratory distress, Short stature, Urinary incontinence, Oral-pharyngeal dysphagia, Truncal obe... ORPHA:404448
Osteoglophonic Dysplasia
Respiratory distress, Severe short stature, Hypospadias, Rhizomelia, Growth delay, Chordee, High ... OMIM:166250
Listeriosis
Respiratory distress, Liver abscess, Pneumonia, Jaundice, Peritonitis, Pyelonephritis, Hepatic gr... ORPHA:533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, High palate ORPHA:438216
Mgat2-Cdg
Respiratory distress, Failure to thrive, Gastroesophageal reflux ORPHA:79329
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease... ORPHA:805
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Branchial cyst, Infancy onset short-trunk shor... ORPHA:508488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Gastrointestinal dysmotility, Obesity, Pelvic kidney, Gastroesophageal ref... ORPHA:466943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Elevated hepatic transaminase, Respiratory distress, Respiratory failu... ORPHA:95455
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Intestinal malrotation, Cleft palate, Growth... OMIM:616268
Colchicine Poisoning
Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest ORPHA:31824
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Short stature, Splenomegaly, Aplasia of the epiglottis, Horse... OMIM:617088
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Renal insufficiency, Increased pulmonary vascular resistance,... ORPHA:97214
Infantile Refsum Disease
Hepatomegaly, Short stature, Facial palsy, Progressive muscle weakness, Failure to thrive ORPHA:772
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Asthma, Short stature, Muscle weakness OMIM:616716
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Short stature, High, narrow palate, Moderate... OMIM:119600
Plague
Respiratory distress, Hepatomegaly, Hematemesis, Splenomegaly, Enterocolitis, Acute infectious pn... ORPHA:707
Kasabach-Merritt Syndrome
Respiratory distress, Hepatic hemangioma, Hypopnea ORPHA:2330
Ulbright-Hodes Syndrome
Abnormal penis morphology, Respiratory distress, Postnatal growth retardation, Pneumothorax, Rena... ORPHA:3404
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Short stature, Asthma, Smooth tongue, Intrauterine growth retardation ORPHA:3206
Leptospirosis
Respiratory distress, Hepatomegaly, Cellular urinary casts, Jaundice, Hepatitis, Cough, Elevated ... ORPHA:509
Doors Syndrome
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Cleft palate, Narrow pal... ORPHA:79500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator... OMIM:614748
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Alström Syndrome
Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibros... ORPHA:64
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Short stature, Malabs... ORPHA:912
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Short stature, Cyst of the ductus choledochus, Cleft palate, High palate, D... ORPHA:480880
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Hepatic calcification, Nep... ORPHA:51608
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Isolated Arrhinia
Respiratory distress ORPHA:1134
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Unilateral renal agenesis, Recurrent pneumonia, Growth delay... ORPHA:99646
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Apneic ep... ORPHA:99125
Neonatal Adrenoleukodystrophy
Abnormality of the liver, Short stature ORPHA:44
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Proteinuria, Abnormal liver parenchyma morph... ORPHA:79318
Peroxisome Biogenesis Disorder 2B
High, narrow palate, High 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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pex5tm380174(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter