Gene Summary

Name:
ubiquitin specific peptidase 25
Synonyms:
N/A

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.

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Usp25 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 Usp25 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity,... ORPHA:90283
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent sinopulm... OMIM:609529
Immunodeficiency 50
Decreased circulating antibody level, Eczema, Recurrent respiratory infections, Neutropenia, Lymp... OMIM:300988
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Agammaglobulinemia OMIM:615214
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG, Recurrent respiratory i... OMIM:613495
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia, Systemic lupus erythematosus OMIM:613791
Immunodeficiency 48
Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Eczematoid dermatitis OMIM:269840
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Autoimmunity, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC rat... ORPHA:1303
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... OMIM:607594
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, S... ORPHA:444463
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bronchitis, Neutropenia, Recurrent respirat... OMIM:613501
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Rheumatoid factor positive, Pleural thickening,... OMIM:619632
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Increased circul... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, Otitis... OMIM:601457
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Sinusitis, Recurrent otitis media, Recurrent upper respiratory tract infections, Re... ORPHA:277
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Inc... OMIM:614470
Immunodeficiency 27A
Increased circulating IgG level, Rheumatoid factor positive, Pneumonia, Increased circulating IgM... OMIM:209950
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Isolated Agammaglobulinemia
Autoimmunity, Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of t... ORPHA:229717
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Anti-granulocyte-macrophage colony stimulating factor antibody po... OMIM:610910
Chilblain Lupus
Rheumatoid factor positive, Asthma, Chronic myelomonocytic leukemia, Antiphospholipid antibody po... ORPHA:90280
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level, Recurrent respiratory infections OMIM:137100
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Perinuclear antineutrophil antibody positivity, De... OMIM:618394
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Transient n... OMIM:619707
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atop... ORPHA:217390
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased CD... OMIM:607271
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Splenomegaly, Dyspnea, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Bronchiectasis, Inflammation of the larg... OMIM:618108
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Anemia of ... OMIM:617780
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Hepatosplenomegaly, Increased proportion... OMIM:618982
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Thromb... OMIM:152700
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Decre... OMIM:240500
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Recurrent respi... OMIM:616005
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportio... OMIM:300853
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Eosinophilia, Pneumonia, Decreased proporti... ORPHA:169160
Immunodeficiency 25
Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgG level, Antimitoch... OMIM:610163
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating... ORPHA:411593
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, ... ORPHA:169079
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrope... ORPHA:238459
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Recurrent skin infections, Pneumonia, Monocytosis, Leukemia, Periodontitis, Acute m... ORPHA:486
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Immunodeficiency 7
Autoimmunity, Hypereosinophilia OMIM:615387
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Autoimmune thromb... OMIM:615952
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Asthma, Acute myeloid leukemia, Systemic lupus erythematosus, Eczema, Re... OMIM:616871
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Anemia, Recurre... OMIM:616740
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Au... ORPHA:264675
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Pulmonary pneumatocele, Recurre... OMIM:619752
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Autoimmunity, Abnormal circulating interleukin... ORPHA:158061
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Autoimmunity, Recurrent otitis media, Viral hepatitis, Cholangit... ORPHA:183675
Diffuse Alveolar Hemorrhage
Autoimmunity, Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect,... ORPHA:90060
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukocytosis, Cholangitis, Th... OMIM:619652
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Increased circulating antibody level, Neutropenia, Anemia, Thrombocytop... OMIM:615285
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Immunodeficiency 75
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased pro... OMIM:615559
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Antinuclear antibody positivity, Syst... OMIM:178610
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Tularemia
Pneumonia, Erythema nodosum, Brain abscess, Inflammatory abnormality of the eye, Cutaneous absces... ORPHA:3392
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurren... OMIM:618282
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Hypersensitivity pneumonitis, Nonproductive cough, Restrictive ventilatory defect, ... ORPHA:2902
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Leukopenia, Leukocytosis, Tach... ORPHA:36238
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Autoimmunity, Panniculitis, Recurrent respir... OMIM:615758
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Immunodeficiency 31C
Autoimmunity, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, Lymphopenia,... OMIM:614162
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Microlissencephaly
Pneumonia ORPHA:1083
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Sinusitis, Sclerosing cholangitis, T lymphocytopenia, Abnormal CD4:CD... ORPHA:572
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:608647
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Q Fever
Rheumatoid factor positive, Antimitochondrial antibody positivity, Maculopapular exanthema, Anemi... ORPHA:781
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Autoimmunity, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Sinusitis, Pneumonia, Reduced red cell aden... OMIM:102700
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Pneumonia, Lymphadenitis, Hepatosplenomegaly, Colitis, Autoimmune thrombocytopenia,... ORPHA:911
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:615482
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibody positivity, Pneumonia ORPHA:464370
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis, Cough ORPHA:163703
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Autoimmune hemolytic anemia, Insulin receptor antibody positivity, Membranous nephr... ORPHA:37042
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Pericarditis, Antinuclear antibody positivity, Pleuriti... OMIM:609939
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Felty Syndrome
Autoimmunity, Recurrent pneumonia, Sinusitis, Abnormal lymphocyte morphology, Splenomegaly, Throm... ORPHA:47612
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Increased circulating IgM level, Dysgammaglobuline... OMIM:308240
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Recurrent bronchitis, Bronchiectasis, Recurrent s... OMIM:617091
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Rheumatoid factor positive, Reticular pattern... ORPHA:99931
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:1572
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglobulinemia, Otitis media, ... OMIM:602450
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough, Bronchiectasis, Neutr... ORPHA:33110
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Bronchiectasis, Productive cough,... OMIM:618699
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Increased circulat... ORPHA:169154
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
X-Linked Agammaglobulinemia
Autoimmunity, Recurrent pneumonia, Sinusitis, Agammaglobulinemia, Arthritis, Thrombocytopenia, Ne... ORPHA:47
Omenn Syndrome
Autoimmunity, Abnormal lymphocyte morphology, Eosinophilia, Pneumonia, Leukocytosis, Splenomegaly... ORPHA:39041
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Abnormal circulating interleukin concentration, Uveitis, Knee osteoarthritis, Rheum... ORPHA:85410
Melioidosis
Pneumonia, Lung abscess, Parotitis, Cutaneous abscess, Osteoarthritis, Prostatitis, Respiratory t... ORPHA:31202
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, T lymphocytopeni... OMIM:600802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Autoimmunity, Decreased circulating total IgM, Lymphadenitis, De... ORPHA:331206
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Eczematoid dermatitis, Aplasi... OMIM:242700
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Erythroderma, Anemia, B lymphocy... OMIM:603554
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia ORPHA:319552
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Autoimmunity, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial breath so... ORPHA:1302
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Decreased circulating total IgM, Sinusitis, Recurrent upper respi... OMIM:600903
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Asthma, Increased circulating IgG4 level, Increased inflammatory... ORPHA:449400
Subcorneal Pustular Dermatosis
Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arth... ORPHA:48377
Lymphoid Interstitial Pneumonia
Autoimmunity, Restrictive ventilatory defect, Hypoxemia, Autoimmune antibody positivity, Crackles... ORPHA:79128
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Cholangitis, Bronchiectasis, Recurrent respiratory i... OMIM:615207
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:613179
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Peritonitis, Maculopa... ORPHA:228119
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Arthritis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulo... OMIM:304790
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Thymoma
Autoimmunity, Myositis, Neoplasia of the pleura, Leukemia, Glomerulonephritis, Imbalanced hemoglo... ORPHA:99867
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmunity, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Recurrent otitis media, Restrictive ventilatory defect, Pneumonia, T lymphocytopeni... OMIM:607944
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Abnormal circulating interleu... ORPHA:3243
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutropenia, Monocyt... ORPHA:2688
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:615816
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Tachypnea, Hepatitis, Fasciitis, Thrombocytopenia, Skin ra... ORPHA:36234
Spondyloenchondrodysplasia
Pancytopenia, Autoimmunity, Anti-dsDNA antibody positivity, Pneumonia, Autoimmune hemolytic anemi... ORPHA:1855
Aregenerative Anemia
Pancytopenia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive helper T... ORPHA:101096
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Abnormal circulating interleukin concentration, Decreased propor... ORPHA:79124
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis OMIM:618398
Immunodeficiency 58
Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, Cutaneous ... OMIM:618131
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Leukopenia, Infectious encephalitis, Tachypnea, Respir... ORPHA:454836
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Malar rash, Anti-acetylcholine receptor antibody posi... ORPHA:79480
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Pleural effusion, Pericarditis, Anterior uveitis, Skin rash, Juvenile... ORPHA:85414
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Dyspnea, Bronc... ORPHA:169105
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Thymic Aplasia
Autoimmunity, Sinusitis, T lymphocytopenia, Pneumonia, Chronic oral candidiasis, Coombs-positive ... ORPHA:83471
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Exertional dyspnea, Skin... ORPHA:90036
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Pneumonia, Splenomegaly, Chronic otitis media, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Respiratory failure, Spleno... ORPHA:3226
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Autoimmune hemolytic anemia, Autoimmu... ORPHA:760
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune antibody positivity, Autoi... ORPHA:227990
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointers... ORPHA:139402
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hypoxemia... ORPHA:542323
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Leukocytosis, Agammaglobulinemia, Interface hepatitis, Thrombocytosis, Autoimmune h... OMIM:243150
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Neutrophilia, Myocarditis, Splenomegaly, Hepatitis,... ORPHA:829
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Hypersplenism, Hepatosplenomegaly, Cholangitis, Insulin receptor anti... ORPHA:228426
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Aplasia/Hypoplasia of the spleen, Leukopenia, Autoimmune antibody positivity, Hashi... ORPHA:227982
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Autoimmunity, Absent natural killer cells, Histioc... ORPHA:2442
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusi... ORPHA:244
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly, Systemic lupus erythematosus, Exertional... ORPHA:90033
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Pneumonia,... ORPHA:420741
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pneumonia, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody level, Iron deficie... OMIM:226300
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Neoplasm of the lung,... ORPHA:662
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Recurrent upper respiratory tract infections... ORPHA:293978
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Infectious encephalitis, Autoim... ORPHA:391487
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Cryptococcosis
Autoimmunity, Pneumonia, Peritonitis, Prostatitis, Systemic lupus erythematosus, Cough, Pleural e... ORPHA:1546
Graft Versus Host Disease
Myositis, Pneumonia, Hepatosplenomegaly, Gastrointestinal inflammation, Inflammatory abnormality ... ORPHA:39812
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunc... OMIM:158310
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Pan... OMIM:617099
Nocardiosis
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Leukocytosis, Myocarditis, Respirat... ORPHA:544482
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Uveitis, Pneumonia, Respiratory... ORPHA:125
Psoriasis-Related Juvenile Idiopathic Arthritis
Autoimmunity, Uveitis, Iritis, Abnormality of tumor necrosis factor secretion, Anterior uveitis, ... ORPHA:85436
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Shwachman-Diamond Syndrome
Pancytopenia, Sinusitis, Pneumonia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil ... ORPHA:811
Postinfectious Vasculitis
Viral hepatitis, Recurrent streptococcus pneumoniae infections, Pneumonia, Rheumatoid factor posi... ORPHA:48435
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Insulin-Resistance Syndrome Type B
Autoimmunity, Increased circulating IgG level, Pneumonia, Leukopenia, Increased circulating IgA l... ORPHA:2298
Listeriosis
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Infectious encephalitis, Myocarditis, O... ORPHA:533
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Otitis media, Abnormality of neutrophil physiology, Con... ORPHA:2968
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Coccidioidomycosis
Pancreatitis, Exudative pleural effusion, Skin rash, Cough, Osteomyelitis, Granuloma, Pericarditi... ORPHA:228123
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Liver abscess, Abnormal lung morphology, Brain abscess ORPHA:54251
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Osteomyelitis, Pulmonary fibrosis, Pustule, Respiratory distress, Sto... OMIM:612852
Igg4-Related Kidney Disease
Rheumatoid factor positive, Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormal... ORPHA:449395
Shigellosis
Uveitis, Pneumonia, Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Peritonitis, Myoc... ORPHA:810
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Bron... ORPHA:97287
Wiskott-Aldrich Syndrome
Microcytic anemia, Autoimmunity, Blepharitis, Anemia, Otitis media, Abnormal platelet morphology,... ORPHA:906
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Reduced natural kille... OMIM:619381
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Increased circulating IgA level, Neutrophilia, S... OMIM:260920
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Cough, Anemia, Thrombocytopenia, Epistaxis ORPHA:91547
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Nijmegen Breakage Syndrome
Sinusitis, Recurrent pneumonia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic ane... OMIM:251260
Zygomycosis
Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Infectious encephalitis, Myocardi... ORPHA:73263
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, T lymphocytopenia, Leukemia, Decreased circulating Ig... OMIM:208900
Igg4-Related Thyroid Disease
Autoimmunity, Sclerosing cholangitis, Hashimoto thyroiditis, Increased circulating IgG4 level, An... ORPHA:64744
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Pneumonia ORPHA:309288
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Ple... OMIM:249100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infe... ORPHA:1018
Sarcoidosis, Susceptibility To, 1
Emphysema, Pancytopenia, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalve... OMIM:181000
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Inflammatory abnormality of the skin, Pancreatitis, Throm... ORPHA:3260
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia ORPHA:1930
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Pneumonia, Normocytic anemia, Skin rash ORPHA:247691
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Pneumonia, Thrombocytopenia OMIM:603467
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Aspiration pneumonia, Thrombocytopenia OMIM:617053
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Thrombocytopenia, Anemia, Pulmonary fibrosis, Aplastic anemia, Lymphopenia OMIM:127550
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Autoimmune antibody positivity, Hy... ORPHA:79138
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Inflammatory abnormality of the skin ORPHA:26793
Gm1 Gangliosidosis
Hepatosplenomegaly, Infectious encephalitis, Splenomegaly, Recurrent respiratory infections, Aspi... ORPHA:354
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Recurrent pneumonia, Leukocytosis, Neutrophilia, Anemi... ORPHA:99843
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Respiratory tract infection, Increased red blood c... ORPHA:68
Cystic Fibrosis
Recurrent pneumonia, Hepatosplenomegaly, Reduced forced expiratory volume in one second, Asthma, ... OMIM:219700
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hypertension, Exe... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arteri... ORPHA:99103
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Epididymitis, Thrombocytopenia, Conjunctivitis, Leukopenia, Neutrophilia, Myocardit... ORPHA:99827
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Mucopolysaccharidosis Type 3
Splenomegaly, Respiratory tract infection, Obstructive sleep apnea, Upper airway obstruction, Oti... ORPHA:581
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Thrombocytopenia OMIM:122470
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Pulmonary embolism, Aspiration pneumonia, Thrombocytopenia ORPHA:94093
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Pneumonia, Otitis media ORPHA:309282
Degcags Syndrome
Pancytopenia, Pneumonia, Tracheomalacia, Congenital hypoplastic anemia, Hepatosplenomegaly, Asthm... OMIM:619488
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Splenomegaly, Inflammation ... ORPHA:707
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, Increased ci... ORPHA:99829
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Niemann-Pick Disease Type C
Hepatosplenomegaly, Abnormal lung morphology, Respiratory failure, Splenomegaly, Bone-marrow foam... ORPHA:646
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Asthma, Sleep apnea, Pulmonary arterial hypertension, Chronic lung disease, Aspir... ORPHA:444077
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis media ORPHA:353281
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353277
Semilobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Anemia, Obstructive sleep apnea, Breathing dysregulation, A... ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Abscess, Osteomyelitis, Anemia, Fasciitis, Septic arthritis, Recurrent aspiration ... ORPHA:642
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory insufficiency, Recurrent aspiration pn... OMIM:612289
Doors Syndrome
Thrombocytosis, Aspiration pneumonia, Respiratory distress ORPHA:79500
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Recurrent aspiration pneumonia, Hemolytic anemia, Recurrent otitis m... OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Respiratory distress, Pericarditis ORPHA:79318

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 Usp25

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 Usp25.

No publications found that use IMPC mice or data for Usp25.

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MGI Allele Allele Type Produced
Usp25tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp25tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Usp25tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Usp25tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Usp25tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice
Usp25tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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