Gene Summary

Name:
peroxiredoxin 6
Synonyms:
acidic calcium-independent phospholipase A2,  aiPLA2,  GPx,  Brp-12,  Ltw4,  Lvtw-4,  Ltw-4,  1-Cys Prx,  CP-3,  Aop2,  1-cysPrx,  9430088D19Rik,  NSGP,  CC26

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating LDL cholesterol level Prdx6tm1a(EUCOMM)Wtsi HOM Early adult 8.10×10-05
increased circulating aspartate transaminase level Prdx6tm1a(EUCOMM)Wtsi HOM Early adult 7.51×10-06

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 100% (2 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 50% (1 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote 50% (1 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote Not available
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 50% (1 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 100% (2 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 85 images

Human diseases caused by Prdx6 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Prdx6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Proteinuria, Pleural effusion, ... ORPHA:330001
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Cardiorespiratory arrest, Hypotension... ORPHA:188
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Pulmonary edema, C... ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Cardiomyopathy, Familial Hypertrophic, 4
Dyspnea, Right bundle branch block, Pericardial effusion, Left bundle branch block, Hepatomegaly,... OMIM:115197
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Peripheral edema, Orthopnea, Atrial fibrillation, Abnormal ... ORPHA:75249
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Edema, Pulmonary edema... OMIM:267450
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Elevated hepatic transaminase, Acute kidney injury, Hypote... ORPHA:542323
Hellp Syndrome
Elevated hepatic transaminase, Internal hemorrhage, Acute kidney injury, Hypotension, Pleural eff... ORPHA:244242
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Right ventricular failure, Abnormal respirator... ORPHA:70589
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Prolonged bleeding after dental extrac... OMIM:619267
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Klippel-Trénaunay Syndrome
Hydrops fetalis, Prolonged bleeding time, Hematuria, Gastrointestinal hemorrhage, Internal hemorr... ORPHA:90308
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, ... ORPHA:70578
Cocaine Intoxication
Ventricular arrhythmia, Wheezing, Hematuria, Acute kidney injury, Cough, Cerebral hemorrhage, Pul... ORPHA:90068
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Cerebral ischemia ORPHA:3325
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine... ORPHA:567548
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Hematuria, Intracranial he... ORPHA:79
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Aminoaciduria, Hypertension, Glycosur... OMIM:618913
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Eleva... OMIM:178500
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Ethylene Glycol Poisoning
Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Tachypnea, Hypotension, Rena... ORPHA:31826
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Slc35A1-Cdg
Pulmonary hemorrhage, Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia... ORPHA:238459
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Lymphatic Malformation 7
Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema, Pulmonary edema, Non... OMIM:617300
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ataxia With Vitamin 3 Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:277460
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Ovarian Hyperstimulation Syndrome
Hypovolemia, Pleural effusion, Peripheral edema, Pulmonary edema, Ascites, Generalized edema, Cap... ORPHA:64739
Myh9-Related Disease
Prolonged bleeding time, Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Nephrop... ORPHA:182050
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Hem... ORPHA:98879
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Anasarca, Albuminuria, Dyspnea, Palpebral edema, Focal segmental glo... ORPHA:567546
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Hematuria, Dyspnea, Pulmonary fibrosi... ORPHA:90060
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Abnormal bleeding, Palpitations, Ischemic stroke, Dyspnea, Hemothorax, Coug... ORPHA:2038
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Rowley-Rosenberg Syndrome
Aminoaciduria, Hypertension, Atelectasis, Recurrent pneumonia, Pulmonary arterial hypertension OMIM:268500
Hermansky-Pudlak Syndrome 1
Restrictive ventilatory defect, Prolonged bleeding time, Pulmonary fibrosis, Hematochezia, Cardio... OMIM:203300
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Pulmonary ... OMIM:619003
Tubular Renal Disease-Cardiomyopathy Syndrome
Abnormal renal resorption, Pericardial effusion, Sudden cardiac death, Hepatic calcification, Hyp... ORPHA:73224
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Pulmonary edema, Ascites, Bradycard... OMIM:261740
Histiocytoid Cardiomyopathy
Tachypnea, Wolff-Parkinson-White syndrome, Atrial flutter, Cough, Atrial fibrillation, Ventricula... ORPHA:137675
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Hematuria, Menorrhagia, Stage 5 chronic kidney diseas... OMIM:153640
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Scorpion Envenomation
Cardiac conduction abnormality, Acute kidney injury, Pulmonary edema, Myocarditis, Cardiogenic sh... ORPHA:466677
Spastic Paraplegia Type 2
Spastic/hyperactive bladder, Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Small vessel vasculitis, Hematuria, Dyspnea, Pleural effusion, Em... ORPHA:36412
Athrombia, Essential
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhe... OMIM:209050
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Cirrhosis, Portal hypertension, Emphysema, Hepatic failure OMIM:210050
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi... OMIM:155100
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Dyspnea, Bronchiectasis, Lymphedema, Cough, Ne... ORPHA:662
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis OMIM:615888
Congenital Disorder Of Glycosylation, Type Iio
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... OMIM:616828
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired p... OMIM:277480
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tr... ORPHA:2414
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mixed Connective Tissue Disease
Pleuritis, Pericarditis, Prolonged bleeding time, Pulmonary fibrosis, Purpura, Gastrointestinal h... ORPHA:809
Lymphangioleiomyomatosis
Renal neoplasm, Restrictive ventilatory defect, Multiple renal cysts, Hematuria, Abnormal urinary... ORPHA:538
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Hematuria, Pulmonary embolism, Retinal telangiectasia, Cerebral hemo... ORPHA:774
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Recurrent upper respiratory tract infections, Impaire... OMIM:614075
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Cutis Laxa, Autosomal Dominant 1
Mitral regurgitation, Emphysema, Aortic regurgitation OMIM:123700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Lymphedema, Hepatomegaly, Respiratory failure, ... ORPHA:3226
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Impaired platelet aggregation... OMIM:193400
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary insufficiency, Pulmonary arterial hypertension, Abnorma... ORPHA:70588
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Renal cell carcinoma, Pneumothorax ORPHA:122
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Abnormality of the urinary system, Prolonged bleeding time, Bruising susceptib... OMIM:600208
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat... OMIM:615486
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:608404
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Dyspnea, Hypotension, Abnormal left ventricular fu... ORPHA:97292
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Tachypnea, Elevated pulmonary artery pressure, Third heart s... ORPHA:1329
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Pulmon... ORPHA:99106
Sebastian syndrome
Prolonged bleeding time, Epistaxis OMIM:605249
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Netherton Syndrome
Emphysema, Aminoaciduria, Dehydration, Ectopic kidney, Hydronephrosis, Asthma, Recurrent respirat... ORPHA:634
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pedal edema, Pulmonary artery aneurysm, Pulmonary embol... ORPHA:228116
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Cutis Laxa, Autosomal Recessive, Type Ia
Oligohydramnios, Emphysema, Bladder diverticulum, Supravalvular aortic stenosis, Recurrent respir... OMIM:219100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:314050
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy ORPHA:638
Autosomal Dominant Cutis Laxa
Pulmonic stenosis, Emphysema ORPHA:90348
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Dyspnea, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial... OMIM:178600
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Petechiae, Br... OMIM:187900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Oligohydramnios, Elevated pulmonary artery pressure... OMIM:619351
Macs Syndrome
Prolonged bleeding time, Bronchiectasis, Palpebral edema, Urethral stenosis, Bruising susceptibility OMIM:613075
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:614074
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Autosomal Recessive Cutis Laxa Type 1
Pyelonephritis, Abnormal cardiac ventricular function, Emphysema, Peripheral pulmonary artery ste... ORPHA:90349
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Elevated hepatic transaminase, Bronchiectas... ORPHA:1572
Fabry Disease
Conjunctival telangiectasia, Hematuria, Respiratory insufficiency, Renal insufficiency, Transient... ORPHA:324
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time OMIM:188025
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Increase... ORPHA:747
Wiskott-Aldrich Syndrome, Autosomal Dominant
Prolonged bleeding time, Small vessel vasculitis, Recurrent upper respiratory tract infections, L... OMIM:600903
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Anomalous origin of one pulmonary artery f... ORPHA:3384
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Bladder diverticulum, Pulmonary hyp... OMIM:613177
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Pneumonia, Hepatomegaly, Pulmonary embolism, Edema, Ascites, Generalized edema OMIM:226300
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Sinusitis, Purpura, Epistaxis, Sudden cardiac death, Petechiae, Abnormal... ORPHA:906
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Pulmonary edema, Abnormal pat... ORPHA:79139
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Prolonged bleeding time OMIM:173420
Eisenmenger Syndrome
Ventricular arrhythmia, Wheezing, Exertional dyspnea, Patent ductus arteriosus, Tricuspid regurgi... ORPHA:97214
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:601399
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:181000
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema ORPHA:624
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Melena, Cerebral hemorrhage,... OMIM:187300
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Subcutaneous hemorrhage, Purpura ORPHA:743
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Abnormal bleeding, Angina pectoris, Hemoglobinuria, Pulmonary embolism... ORPHA:447
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Purpura ORPHA:745
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Emphysema, Recurrent bronchopulmonary infections, Recurrent pneumonia, Hepatosple... OMIM:242700
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack, Prolonged bleeding time ORPHA:3318
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Ecchymosis, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on ... OMIM:130050
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Emphysema, Mitral regurgitation, Papillary renal cell carcinoma, Hyperte... ORPHA:363618
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Small vessel vasculitis, Recurrent upper respiratory tract infections, P... OMIM:301000
49,Xxxxy Syndrome
Pulmonary embolism, Renal dysplasia, Asthma, Hypoplasia of penis, Renal hypoplasia/aplasia, Recur... ORPHA:96264
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neuroleptic Malignant Syndrome
Arrhythmia, Elevated hepatic transaminase, Acute kidney injury, Hypotension, Increased circulatin... ORPHA:94093
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Central sleep apnea, Right ventricular failure, Exertional dyspnea, Car... ORPHA:70591
Sarcoidosis
Joint swelling, Bronchiectasis, Cough, Hypercalciuria, Decreased liver function, Renal insufficie... ORPHA:797
Laron Syndrome
Hypercholesterolemia ORPHA:633
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Biliary cirrhosis, Wide nasal bridge, Recurrent bronchopulmonary infections, Biliary t... OMIM:219721
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Tachypnea, Elevated hepatic transaminase, Oligohydramnios, Hepatic steatosis, Emphysem... OMIM:613658
48,Xxxy Syndrome
Pulmonary embolism, Renal dysplasia, Asthma, Hypoplasia of penis, Recurrent respiratory infections ORPHA:96263
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Intracranial hemorrhage, Vasculitis in the skin, Cough, Pulmonary embolism, Chron... ORPHA:3260
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia ORPHA:79237
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Pulmonary fibrosis, Impaired ADP-induced platelet aggregation, Wide nasa... OMIM:608233
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Pulmonary embolism, Myocardial infarction, Arte... ORPHA:464343
Behçet Disease
Renal insufficiency, Pleuritis, Pericarditis, Aortic regurgitation, Gastrointestinal hemorrhage, ... ORPHA:117
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Sitosterolemia 1
Hypercholesterolemia, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration OMIM:210250
Nocardiosis
Abnormal sputum, Pleuritis, Pericarditis, Respiratory distress, Dyspnea, Pleural effusion, Emphys... ORPHA:31204
Loeys-Dietz Syndrome 4
Emphysema, Bruising susceptibility, Pneumothorax OMIM:614816
Ellis Van Creveld Syndrome
Hydroureter, Emphysema, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Hypospadias, ... ORPHA:289
Dysbetalipoproteinemia
Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Neonatal Marfan Syndrome
Abnormal echocardiogram, Emphysema, Hypoxemia, Tricuspid regurgitation, Wide nasal bridge, Neonat... ORPHA:284979
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time OMIM:185050
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hydrops fetalis, Dilated cardiomyopathy, Respiratory distress, Subdural hemorrhage, Glomerulopath... ORPHA:79282
Keutel Syndrome
Recurrent bronchitis, Emphysema, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasi... OMIM:245150
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Meier-Gorlin Syndrome 6
Short nose, Underdeveloped nasal alae, Emphysema, Laryngomalacia, Tracheobronchomalacia, Antevert... OMIM:616835
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatoce... ORPHA:79259
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cutis Laxa, Autosomal Recessive, Type Ib
Bulbous nose, Oligohydramnios, Pulmonary insufficiency, Emphysema, Pulmonary artery aneurysm, Bra... OMIM:614437
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Pulmonary arterial ... OMIM:600376
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:264580
Angioosteohypertrophic Syndrome
Hematuria, Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the skin, Pulmonary embolis... ORPHA:2346
Classic Homocystinuria
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension... ORPHA:394
Dehydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Cholelithiasis, Intermittent jaundice,... ORPHA:3202
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Intraalveo... ORPHA:470
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Marfan Syndrome
Spontaneous pneumothorax, Emphysema, Congestive heart failure, Hemoptysis, Pulmonary artery dilat... ORPHA:558
Marfan Syndrome
Aortic regurgitation, Emphysema, Tricuspid regurgitation, Pneumothorax, Congestive heart failure,... OMIM:154700
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Ischemic stroke, Short nose, Patent ductus arteriosus after birth at te... ORPHA:500150
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Joint swelling, Orthostatic hypotension, Abnormal heart valve physiology... ORPHA:287
Proteus Syndrome
Abnormal lung lobation, Long penis, Lymphedema, Bronchogenic cyst, Sudden cardiac death, Pulmonar... ORPHA:744
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Xanthelasma, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Familial Chylomicronemia Syndrome
Jaundice, Pulmonary embolism, Hepatosplenomegaly, Hepatic steatosis ORPHA:444490
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hyperaldosteronism, Hypokalemia ORPHA:534
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Bicarbonaturia, Elevated materna... OMIM:309000
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665

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 Prdx6

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 Prdx6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Prdx6tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Prdx6tm1a(EUCOMM)Wtsi