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

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
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... ORPHA:141152
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Failure to thrive, Diaphragmatic weakness, Poor head control, Gastroesophageal reflu... OMIM:614399
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Progressive proximal muscle weakness, Distal muscle weakness, Respiratory i... ORPHA:254875
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Fatigable weakness, Ophthalmoparesis, Limb muscle weakness, Apneic episodes... OMIM:605809
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Fatigable weakness, Ophthalmoparesis, Apneic episodes precipitated by illne... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Hepatic steatosis OMIM:615595
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Short stature, Frontalis muscle weakness, Facial pal... OMIM:300580
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... ORPHA:70589
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Cough, Pleural effusion, Dysphagia, Abnormal respiratory syst... ORPHA:50251
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Respiratory distress, Hepatomegaly, Macroglossia, Respiratory failure requiring assi... ORPHA:254864
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respirati... ORPHA:77260
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Increased level of meth... 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, Abnormal renal corticomedullary differentiation,... OMIM:616733
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity, Renal cyst, Renal insufficiency OMIM:615993
Perching Syndrome
High palate, Dysphagia, Respiratory distress OMIM:617055
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Stuve-Wiedemann Syndrome 2
Respiratory distress, Stillbirth, Neonatal death, Dysphagia, Pulmonary arterial hypertension, Int... OMIM:619751
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Median cleft lip and palate, Respiratory failure, Dyspnea, Intrauterine gro... ORPHA:1832
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Tachypnea, Cough, Tubulointerstitial fibrosis, Respirato... OMIM:263000
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Aminoaciduria, Cachexia, Proximal tubulopathy, External ... OMIM:612075
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Generalized muscle weakness ORPHA:238329
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... OMIM:613490
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
High palate, Respiratory distress, Distal muscle weakness, Paradoxical respiration, Foot dorsifle... OMIM:620011
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Diaphragmatic weakness, Respiratory insufficiency, Dysphagia, Tongue atroph... OMIM:211530
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Myopathy And Diabetes Mellitus
Respiratory distress, Progressive proximal muscle weakness, Pelvic girdle muscle weakness, Weakne... ORPHA:2596
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Gastroesophageal reflux, Hepatomegaly, Chronic pulmonary obstruction, Splen... ORPHA:2414
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... ORPHA:264675
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias, Failure to thrive OMIM:300934
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Agenesis of corpus callosum, Bronchiectasis OMIM:619466
Stt3B-Cdg
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Micropenis ORPHA:370924
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress, Multiple renal cysts, Cleft palate ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Micropenis OMIM:615597
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... ORPHA:91359
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Synaptic Congenital Myasthenic Syndromes
High palate, Respiratory distress, Sleep apnea, Poor head control, Exertional dyspnea, Distal mus... ORPHA:98915
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Gowers sign, Limb-girdle muscle weakness, Cough, Proximal muscle weakness, ... ORPHA:86812
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Hepatomegaly, Oligosacchariduria, Macroglossia, Respirat... ORPHA:308552
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hepatomegaly, Respiratory distress OMIM:614741
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, High palate, Failure to thrive, Decreased liver function, Hepatomegaly... OMIM:220110
Anaplastic Thyroid Carcinoma
Respiratory distress, Tracheoesophageal fistula, Cough, Upper airway obstruction, Dysphagia, Dysp... ORPHA:142
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Generalized... OMIM:231680
X-Linked Centronuclear Myopathy
Respiratory distress, High palate, Fatigable weakness of swallowing muscles, Respiratory failure ... ORPHA:596
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Decreased liver function, Hepatomegaly, Hepatic failure,... ORPHA:367
Congenital Myasthenic Syndrome
High palate, Respiratory arrest, Sudden episodic apnea, Bulbar palsy, Poor head control, Episodic... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
High palate, Respiratory arrest, Sudden episodic apnea, Bulbar palsy, Poor head control, Episodic... ORPHA:98914
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Failure to thrive, Respiratory distress, Poor head control, Hypospadias, Growth dela... OMIM:619272
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Dysphagia, Intrauterine growth retardation, Agenesis of... ORPHA:89844
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory distress, Distal muscle weakness, Respiratory insufficiency, Proximal mu... ORPHA:1145
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Hepatomegaly, Pancreatitis, Splenomegaly, Renal insuffic... ORPHA:79312
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Respiratory distress, Hepatomegaly, Pancreatitis, Renal insufficiency,... ORPHA:289916
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:261304
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Myotonic Dystrophy 1
Facial diplegia, Cholelithiasis, Respiratory distress, Muscle weakness, Dysphagia OMIM:160900
Neurogenic Arthrogryposis Multiplex Congenita
Lower limb muscle weakness, Upper limb muscle weakness, Respiratory distress, Respiratory insuffi... ORPHA:1143
Oculopharyngodistal Myopathy 1
High palate, Respiratory distress, Distal muscle weakness, Hypercapnia, Ophthalmoparesis, Foot do... OMIM:164310
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iu
High palate, Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress OMIM:615042
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive, Gastroesophageal reflux OMIM:618426
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Hypoxemia, Respiratory insufficiency, Interstitial pneum... OMIM:610913
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Respiratory distress, Intestinal malrotation, Tracheoesophageal f... ORPHA:210122
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Neon... OMIM:610921
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Hypoglossia With Situs Inversus
High palate, Respiratory distress, Upper airway obstruction, Microglossia, Polysplenia, Asplenia OMIM:612776
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Respiratory distress, Splenomegaly, Respiratory insufficiency,... OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure, Fatigable weakness of swallowing muscles... ORPHA:365
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Elevated hepatic transaminase, Hepat... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Elevate... OMIM:608799
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Intrauterine growth retardation, Respiratory distress OMIM:619793
Multiple Carboxylase Deficiency
Organic aciduria, Limb muscle weakness, Respiratory distress, Tachypnea ORPHA:148
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Holoprosencephaly, Microglossia, Agenesis of corpus ca... ORPHA:990
Congenital Diaphragmatic Hernia
Intestinal malrotation, Respiratory distress, Hypoxemia ORPHA:2140
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Organic aciduria, Growth delay, Weight loss ORPHA:79242
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steator... OMIM:260400
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress OMIM:604377
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Acute Lung Injury
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... ORPHA:178320
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Failure to thrive, Respiratory distress, Poor head control, Hepatomegaly, Elevated h... ORPHA:329178
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, High, narrow palate, Muscle flaccidity, Dyspnea, Growth ... ORPHA:2707
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Respiratory distress, Hydrocephalus, High, narrow palate, Anteriorly placed anus, Gr... OMIM:612863
Agnathia-Otocephaly Complex
Respiratory distress, Cleft palate, Holoprosencephaly, Tracheomalacia, Aglossia, Microglossia, Ag... OMIM:202650
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor ORPHA:97285
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Diaphanospondylodysostosis
Respiratory distress, Cleft palate, Tracheomalacia, Abnormal liver lobulation, Respiratory insuff... OMIM:608022
Esophageal Atresia
Respiratory distress, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, Anorectal anomal... ORPHA:1199
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Increased urinary glycerol, Apneic episod... ORPHA:348
Myotubular Myopathy With Abnormal Genital Development
High palate, Respiratory distress, Micropenis, Hypospadias, Glandular hypospadias, Neonatal death... OMIM:300219
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Large for gestational age, Umbilical hernia, Prolonged neonat... ORPHA:226313
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Methylmalonic aciduria, Tubu... OMIM:251000
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Decreased liver function, Apnea, Renal tubular acidosis,... ORPHA:70474
Progressive Supranuclear Palsy-Corticobasal Syndrome
Dysphagia, Respiratory distress ORPHA:240103
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Episodic tachypnea, Small for gestational age, Tach... ORPHA:26793
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Poor head control, Gastroesophageal reflux, Shoulder gir... ORPHA:206436
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Acute kidney injury, Dyspnea, Generalized muscle ... ORPHA:330021
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Toxic Epidermal Necrolysis
Dysuria, Respiratory distress, Malabsorption, Pancreatitis, Acute hepatic failure, Tracheoesophag... ORPHA:537
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Hepatomegaly, Hepatic failure, Splenomegaly, ... OMIM:608013
Pfeiffer Syndrome Type 3
High palate, Anal atresia, Respiratory distress, Aqueductal stenosis, Cleft palate, Tracheomalaci... ORPHA:93260
Q Fever
Respiratory distress, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hematuria, Cholecystitis, C... ORPHA:781
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Hepatomegaly, Enterocolitis, Small for gestation... ORPHA:90051
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pneumonia, Tracheomalacia, Whee... ORPHA:95430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Aplasia/Hypoplasia of the tongue ORPHA:2759
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Moebius Syndrome
Facial diplegia, High palate, Respiratory distress, Micropenis, Bifid uvula, Dysphagia OMIM:157900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Hepatomegaly ORPHA:927
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Poor head control, Reduced renal corticomedullary differentiation, Multiple... OMIM:618733
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Short stature, Hypospadias, Respiratory failure,... ORPHA:209905
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Odontochondrodysplasia 1
Respiratory distress, Nephronophthisis, Short stature, Polycystic kidney dysplasia, Mesomelic sho... OMIM:184260
Pfeiffer Syndrome Type 2
High palate, Anal atresia, Hydrocephalus, Respiratory distress, Aqueductal stenosis, Cleft palate... ORPHA:93259
Tetrasomy 5P
High palate, Failure to thrive, Hydrocephalus, Respiratory distress, Postnatal growth retardation... ORPHA:3309
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Congenital Tracheal Stenosis
Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological ... ORPHA:141127
Primary Dystonia, Dyt4 Type
Dysphagia, Respiratory distress, Eunuchoid habitus ORPHA:98805
Oromandibular Dystonia
Dysphagia, Weight loss, Respiratory distress ORPHA:93958
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Ileus, Malabsorption, Nephrotic syndrome, Gastritis, Colitis, Respirat... ORPHA:37042
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Gastroesophageal reflux, Episodic hypoventilation, Muscle weakness... OMIM:301790
Tetanus
Respiratory distress, Tachypnea, Dysphagia, Elevated urinary epinephrine, Elevated urinary norepi... ORPHA:3299
Radio-Renal Syndrome
Respiratory distress, Severe short stature, High, narrow palate, Chylothorax, Multicystic kidney ... ORPHA:3015
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Ketonuria, Hepatomegaly, Methylmalonic aciduria OMIM:251110
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Pneum... ORPHA:340
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Ma... OMIM:617303
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastroesophageal reflux, Macroglossia, Short stature, Pyloric stenosis, Lar... ORPHA:363705
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Short stature OMIM:617180
Cryptococcosis
Respiratory distress, Hydrocephalus, Cirrhosis, Peritonitis, Cough, Limb muscle weakness, Pneumon... ORPHA:1546
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus, Narrow palate, Cleft palate, Abnormality of the pancreas, An... ORPHA:1555
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Failure to thrive, Malabsorption, Colitis, Pancreatitis, Asthma, Splenomega... ORPHA:3260
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive, Ketonuria, Hepatomegaly, Methylmalonic aciduria OMIM:251100
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Apnea, Episodic respiratory distress, Hepatomegaly, Hepatic failure, Ophthalmo... ORPHA:255210
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cleft palate, Tracheomalacia, Hypospadias, Anteriorly placed anus, Neonatal... OMIM:217980
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, 3-Methylglutaconic aciduria, Recurrent pneumonia, Growth delay,... OMIM:616271
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Respiratory insuffici... OMIM:615486
Farber Disease
Respiratory distress, Failure to thrive, Hepatic failure, Short stature, Hepatosplenomegaly, Resp... ORPHA:333
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia ORPHA:238459
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Failure to thrive, Ketonuria, Hydrocephalus, Jaundice, Methylmalonic acidur... ORPHA:79282
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Organic aciduria, Limb muscle weakness, Hyperventilation ORPHA:79241
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hydrocephalus, Narrow palate, Anteriorly placed anus, Agenesis of corpus ca... OMIM:123790
Lujo Hemorrhagic Fever
Respiratory distress, Odynophagia, Nonproductive cough, Fulminant hepatitis, Crackles, Oliguria, ... ORPHA:319213
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Bifid uvula, Cleft palate, Short stature OMIM:606164
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
High palate, Apnea, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Hepatomegaly, Respiratory distress OMIM:619383
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Failure to thrive, Respiratory distress, Ureterocele, Hydroureter, Ureteral obstruction,... ORPHA:79404
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Hypoplasia of penis, Cleft palate,... ORPHA:2554
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Abnormal renal physiology, Proteinuria, Prolonged neonatal jaundi... OMIM:274150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Respiratory distress, Hydrocephalus, Nephrotic syndrome, Airway obstru... ORPHA:505248
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:612852
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Posteriorly placed anus, Hydrocephalus, Anal atresia, Duodenal atresia, Aqueduc... OMIM:306955
Kniest Dysplasia
Respiratory distress, Cleft palate, Tracheomalacia, Disproportionate short-trunk short stature, R... OMIM:156550
Renal Dysplasia-Limb Defects Syndrome
High palate, Respiratory distress, Neonatal death, Renal hypoplasia, Respiratory failure, Pneumot... OMIM:266910
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Hereditary Angioedema Type 1
Intestinal edema, Respiratory distress, Abnormal soft palate morphology, Inspiratory stridor, Dys... ORPHA:100050
Congenital Enterovirus Infection
Respiratory distress, Hepatic failure, Cholestasis, Hepatitis, Pleural effusion ORPHA:292
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational... ORPHA:2255
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive, Xero... ORPHA:1051
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Failure to thrive, Apnea, Gastroesophageal reflux, Hepatomegaly, Hypospadia... ORPHA:17
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Cocaine Intoxication
Respiratory distress, Colitis, Hematuria, Tachypnea, Pneumothorax, Wheezing, Tubulointerstitial n... ORPHA:90068
Auriculocondylar Syndrome
Respiratory distress, Cleft palate, Glossoptosis, Bifid uvula, Hamartoma of tongue, Microglossia,... ORPHA:137888
Diamond-Blackfan Anemia 10
Respiratory distress, Cleft palate, Short stature, Ectopic kidney, Growth delay OMIM:613309
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cleft palate, Neonatal short-trunk short stature, Bifid uvula, Restrictive ... OMIM:183900
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Esophageal atresia, Cleft palate, Short stature OMIM:610536
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Crackles, Elevated pulmonary arte... ORPHA:1329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Anal atresia, Cleft palate, Short stature, Bifid uvula, Hydronephrosis OMIM:300968
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Respiratory distress, Hepatomegaly, Cleft palate, Micropenis, ... ORPHA:83617
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormality of the anus, Hydrocephalus, Failure to thrive, Severe short sta... ORPHA:2556
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Chondroitin sulfate excretion in urine, Decreased body weight, Hepatomegaly... OMIM:615273
Ethylene Glycol Poisoning
Renal tubular dysfunction, Episodic respiratory distress, Gastritis, Facial palsy, Hematuria, Tac... ORPHA:31826
Pachyonychia Congenita
Respiratory distress, Failure to thrive, Oral leukoplakia ORPHA:2309
Meier-Gorlin Syndrome 1
High palate, Failure to thrive, Respiratory distress, Gastroesophageal reflux, Cleft palate, Micr... OMIM:224690
Japanese Encephalitis
Respiratory distress, Distal upper limb muscle weakness, Irregular respiration, Respiratory paral... ORPHA:79139
Mogs-Cdg
High palate, Apnea, Respiratory distress, Hepatomegaly, Hepatosplenomegaly, Hypoventilation ORPHA:79330
Campomelic Dysplasia
High palate, Failure to thrive, Hydrocephalus, Neonatal short-limb short stature, Disproportionat... OMIM:114290
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Micropenis ORPHA:2519
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Peritonitis, Tachypnea, Hepatitis, Renal insufficiency, Pneumoni... ORPHA:36234
Nocardiosis
Respiratory distress, Nonproductive cough, Peritonitis, Pneumothorax, Productive cough, Pneumonia... ORPHA:31204
Schinzel-Giedion Syndrome
Nephrolithiasis, High palate, Annular pancreas, Respiratory distress, Hepatoblastoma, Macroglossi... ORPHA:798
Spinal muscular atrophy, type I, with congenital bone fractures
High palate, Respiratory distress OMIM:271225
Arterial Tortuosity Syndrome
Respiratory distress, Hiatus hernia, Gastroesophageal reflux, Pyloric stenosis, Median cleft lip ... ORPHA:3342
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Apnea, Abnormality of the gastrointestinal tract, Aspira... ORPHA:2131
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Osteoglophonic Dysplasia
High palate, Chordee, Failure to thrive, Respiratory distress, Hypospadias, Rhizomelia OMIM:166250
Prader-Willi Syndrome Due To Translocation
High palate, Respiratory distress, Cleft palate, Short stature, Bifid uvula, Lateral ventricle di... ORPHA:177907
Coccidioidomycosis
Respiratory distress, Hydrocephalus, Pancreatitis, Pleural empyema, Peritonitis, Abnormality of t... ORPHA:228123
Rubinstein-Taybi Syndrome 1
High palate, Failure to thrive, Respiratory distress, Narrow palate, Postnatal growth retardation... OMIM:180849
Gitelman Syndrome
Neoplasm of the pancreas, Failure to thrive, Respiratory distress, Renal tubular acidosis, Noctur... ORPHA:358
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Hepatomegaly OMIM:115197
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Adnp Syndrome
Respiratory distress, Gastroesophageal reflux, Short stature, Urinary incontinence, Truncal obesi... ORPHA:404448
Mgat2-Cdg
Respiratory distress, Failure to thrive, Gastroesophageal reflux ORPHA:79329
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Respiratory distress, Hydrocephalus, Tracheomalacia, Repeated pneumothoraces, Respir... ORPHA:536467
Listeriosis
Splenic abscess, Respiratory distress, Peritonitis, Cholecystitis, Hepatic granulomatosis, Acute ... ORPHA:533
Tuberous Sclerosis Complex
Respiratory distress, Chronic kidney disease, Renal angiomyolipoma, Noncommunicating hydrocephalu... ORPHA:805
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Apnea, Hepatomegaly, Aminoaciduria, Cleft palate, Jaundice, Intrahepatic bilia... OMIM:214110
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Dysuria, Respiratory distress, Oral-pharyngeal dysphagia, Abnormal penis morphology, Xerostomia, ... ORPHA:95455
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Gastroesophageal reflux, Dilatation of renal calices, Dysphagia, Pelvic kidney, Obesity, ... ORPHA:466943
Arboleda-Tham Syndrome
Respiratory distress, Gastroesophageal reflux, Cleft palate, Intestinal malrotation, Recurrent as... OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Respiratory distress ORPHA:438216
Colchicine Poisoning
Oliguria, Respiratory distress, Renal insufficiency, Cardiorespiratory arrest ORPHA:31824
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Short stature, Aplasia of the epiglottis, Horse... OMIM:617088
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Wheezing, Muscle weakness, Renal insufficiency, Hypoxemia, Ex... ORPHA:97214
Infantile Refsum Disease
Failure to thrive, Hepatomegaly, Short stature, Progressive muscle weakness, Facial palsy ORPHA:772
Rhizomelic Chondrodysplasia Punctata, Type 5
Growth delay, Asthma, Muscle weakness, Short stature OMIM:616716
Ulbright-Hodes Syndrome
High palate, Severe intrauterine growth retardation, Respiratory distress, Abnormal penis morphol... ORPHA:3404
Cleidocranial Dysplasia 1
High palate, Respiratory distress, Narrow palate, High, narrow palate, Cleft palate, Neonatal res... OMIM:119600
Plague
Respiratory distress, Hepatomegaly, Enterocolitis, Hematemesis, Splenomegaly, Inflammation of the... ORPHA:707
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Short stature, Smooth tongue, Intrauterine growth retardation ORPHA:3206
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, High palate, Respiratory distress, Narrow pala... ORPHA:79500
Leptospirosis
Respiratory distress, Hepatomegaly, Cough, Hepatitis, Acute kidney injury, Elevated serum transam... ORPHA:509
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Hepatic hemangioma ORPHA:2330
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Nephrotic syndrome, Decreased glomerular filtration r... OMIM:614748
Alström Syndrome
Respiratory distress, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Uri... ORPHA:64
8Q24.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Cleft maxillary alveolus, Exocrine pancrea... ORPHA:508488
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
High palate, Anal atresia, Respiratory distress, Cyst of the ductus choledochus, Cleft palate, Sh... ORPHA:480880
Zellweger Syndrome
High palate, Failure to thrive, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Hypo... ORPHA:912
Scimitar Syndrome
Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough ORPHA:185
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medullary nephrocalcinosis, Hepatic calcification, Pancreatic calcification... 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
D-2-hydroxyglutaric aciduria, Failure to thrive, Respiratory distress, Short stature, Unilateral ... ORPHA:99646
Aortic Arch Interruption
Respiratory distress, Exertional dyspnea, Tachypnea ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory f... ORPHA:99125
Pmm2-Cdg
High palate, Failure to thrive, Respiratory distress, Nephrotic syndrome, Aspiration pneumonia, M... ORPHA:79318
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) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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