banner
Genes Phenotypes Help, News, Blog

Gene: Usp25 MGI:1353655

Log in to follow

Gene Summary

Name:
ubiquitin specific peptidase 25
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

6 Images

View 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
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Autoimmune hemolytic anemi... OMIM:247800
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decr... OMIM:312863
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulm... OMIM:609529
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Eczema, Lymphopenia, Neut... OMIM:300988
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Masp2 Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis OMIM:613791
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Recurrent upper respirat... OMIM:618806
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... OMIM:617638
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Neutropenia i... OMIM:607594
Immunodeficiency 48
Panhypogammaglobulinemia, Absence of CD8-positive T cells, Pneumonia, Eczematoid dermatitis, Recu... OMIM:269840
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Autoimmunity, Recurrent otitis media, A... ORPHA:444463
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG l... OMIM:619220
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Recurrent bronchitis, Autoimmunity, Nephritis OMIM:216950
Systemic Lupus Erythematosus 16
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... OMIM:614420
Immunodeficiency 104
T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis medi... OMIM:608971
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ne... OMIM:615214
Immunodeficiency 102
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Recurre... OMIM:301082
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Recurrent respiratory infections, Bronchiectasis, Monocyt... OMIM:226990
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Chronic sinusitis, Recu... OMIM:613502
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... OMIM:615513
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... OMIM:616576
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-n... ORPHA:231154
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Immunodeficiency 52
Bronchiectasis, Decreased circulating antibody level, Increased proportion of gamma-delta T cells... OMIM:617514
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Autoimmunity, Impaired lymphocyte tra... OMIM:617006
Immunodeficiency 27A
Anemia, Rheumatoid factor positive, Abnormal bronchus physiology, Hepatosplenomegaly, Histiocytos... OMIM:209950
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Neutropenia, Increased circulating antibody level, Lymphocytosis,... OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia... OMIM:601457
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Recurrent bronchitis, Rec... OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia, Periodontitis OMIM:162700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammati... OMIM:619281
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Chronic oral candidiasis, T lymphocyto... OMIM:300400
Isolated Agammaglobulinemia
Anemia, Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthrit... ORPHA:229717
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level OMIM:137100
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Brain abscess, Anti-granulocyte-macrophage colony stimul... OMIM:610910
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recur... OMIM:618394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, Inflammatory abnormality of the s... ORPHA:277
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Increased circ... ORPHA:90280
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Anti-thyroid peroxidase antibody positivity, Bronchiectasis, Recurrent lower respir... OMIM:618534
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Antineutrophil antibody positivity ORPHA:464370
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmonary... OMIM:607271
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, B lymphocytopenia, Ast... ORPHA:217390
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... OMIM:619707
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Neutropenia, Recurrent otitis media OMIM:616022
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
C1Q Deficiency 1
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis OMIM:613652
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, Bronchiectasis, B lymphocytopenia, Recurrent sinusiti... OMIM:615518
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... OMIM:193670
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... 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
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia ORPHA:930
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... OMIM:618108
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased c... ORPHA:2688
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Autoimmunity, Dyspnea, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Autoimmunity, Recurrent sinusitis, Recurren... OMIM:240500
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... OMIM:618254
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Hepatitis, Decreased proportion o... ORPHA:169160
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Bronchiectasis, Rec... OMIM:300853
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Thrombocytopenia, Pneumonia, Splenomegaly, Decrease... OMIM:614700
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Antiphospholipid antibody positivity, Hemolytic anemia, Pleuritis, Arthri... OMIM:152700
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... OMIM:608644
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Neutropenia, Periodontitis, Acut... ORPHA:486
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... ORPHA:70578
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Slc35A1-Cdg
Pulmonary hemorrhage, Neutropenia, Hypoxemia, Respiratory distress, Abnormal platelet granules, G... ORPHA:238459
Trimethylaminuria
Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly OMIM:602079
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Eczem... OMIM:617780
Insulin Autoimmune Syndrome
Increased circulating antibody level, Autoimmunity, Autoimmune antibody positivity, Systemic lupu... ORPHA:411593
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent... OMIM:616740
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Lymph... OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... OMIM:615952
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility,... OMIM:266265
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Asthma, Eczema, Systemic lupus erythematosus, Refractory anem... OMIM:616871
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Polysplenia, Chronic pulmon... OMIM:615482
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurren... OMIM:608184
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Asthma, Cutan... OMIM:619752
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Autoimmune antibody positivity, Crackles, Restrictive... ORPHA:264675
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress ORPHA:141152
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... ORPHA:183675
Diffuse Alveolar Hemorrhage
Anemia, Thrombocytopenia, Antiphospholipid antibody positivity, Hypoxemia, Autoimmunity, Rheumato... ORPHA:90060
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis... OMIM:619652
Tularemia
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk... ORPHA:3392
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:615481
Aspergillosis
Bronchiectasis, Pleural effusion, Eosinophilia, Pneumonia, Abnormality on pulmonary function test... ORPHA:1163
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Bronchiectasis, Increased proportion of transitional B cells, B lymph... OMIM:616005
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Eosinophilic ... OMIM:243700
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur... OMIM:150550
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Atopic dermatitis, Asthma, Hypoxemia, Autoimmunity, Pleural effusion, Crackles... ORPHA:2902
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Splenomegaly, Absent isohemagglutinin level, Increased circulating antibo... OMIM:615559
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615139
Microlissencephaly
Pneumonia ORPHA:1083
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... OMIM:614069
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, ... OMIM:613490
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:616481
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinus... OMIM:618282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... OMIM:614878
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615500
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Immunodeficiency 7
Hypereosinophilia, Chronic oral candidiasis, Neutropenia, Autoimmunity, Recurrent otitis media, A... OMIM:615387
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Eosinophilia, Keratitis, Recurrent respiratory in... OMIM:618523
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... ORPHA:1164
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Chronic oral candidiasis, Skin rash, Lymphocy... ORPHA:911
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Neutropenia, B lymphocytopenia,... OMIM:619705
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:620032
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Q Fever
Lupus anticoagulant, Hepatosplenomegaly, Pleural effusion, Pericarditis, Antimitochondrial antibo... ORPHA:781
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Polysplenia, Chronic sinusitis, Recurrent pneumonia, Abnormal... OMIM:613807
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczema... ORPHA:37042
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... OMIM:617092
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, Panhypogammaglobulinemia, T lymphocytopenia, Neutropenia, Decreased circulating antibod... ORPHA:572
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Eosinophilia, Pneumonia, Splenomegaly, Decreased circulating t... OMIM:102700
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... OMIM:601495
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Skin rash... ORPHA:275
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... OMIM:614679
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... OMIM:617091
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Reduced natural kille... ORPHA:276
Felty Syndrome
Splenomegaly, Rhinitis, Anemia, Neutropenia, Arthritis, Pleuritis, Synovitis, Recurrent pharyngit... ORPHA:47612
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:613808
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Eczema, Monocytopenia, Neutropenia OMIM:300299
Common Variable Immunodeficiency
Splenomegaly, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody le... ORPHA:1572
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Extramedullary hematopoiesis, Thrombocy... OMIM:615285
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Neutropenia, Hep... ORPHA:33110
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Recurrent lower respirato... ORPHA:169154
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi... OMIM:301078
Scedosporiosis
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Pgm3-Cdg
T lymphocytopenia, Bronchiectasis, Eczema, Eosinophilia, Recurrent skin infections, Decreased pro... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Decreased circulating IgA level, Increased circulating IgM level, Neut... OMIM:606843
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... OMIM:604571
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Sinusit... OMIM:242860
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Omenn Syndrome
Anemia, Thyroiditis, Autoimmunity, Eosinophilia, Erythroderma, Leukocytosis, Pneumonia, Splenomeg... ORPHA:39041
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Chronic Beryllium Disease
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... ORPHA:133
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Decreased circulating an... ORPHA:51636
X-Linked Agammaglobulinemia
Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Hepatitis, Skin rash, Arthritis, Autoimmunity... ORPHA:47
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Autoimmunity, Decreased circul... OMIM:615758
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Lymphopenia, ... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Recurrent otitis media, Lymphopenia, Impaired lympho... OMIM:600802
Cryptogenic Organizing Pneumonia
Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory de... ORPHA:1302
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir... ORPHA:331206
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Abnormal circulating interleukin concentration ORPHA:319552
Melioidosis
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Hepatitis, Splenic abs... ORPHA:31202
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision... OMIM:602450
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Stomatitis, Pancytopenia,... OMIM:613011
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Increased circulating interferon-gam... ORPHA:85410
Ciliary Dyskinesia, Primary, 19
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Fusariosis
Maculopapular exanthema, Brain abscess, Osteomyelitis, Neutropenia, Bronchiectasis, Productive co... ORPHA:228119
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody... OMIM:301081
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Asthma... ORPHA:449400
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:613193
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... ORPHA:79128
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Ciliary Dyskinesia, Primary, 22
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615444
Panbronchiolitis, Diffuse
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing OMIM:604809
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Increased circulating antibody level, Autoimmunity, Pustule, Systemic lupus... ORPHA:48377
Avian Influenza
Conjunctivitis, Leukopenia, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respi... ORPHA:454836
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Arthritis, Coombs-positi... OMIM:304790
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... ORPHA:70587
Immunodeficiency 56
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... OMIM:615207
Ciliary Dyskinesia, Primary, 1
Asplenia, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinit... OMIM:244400
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Panniculitis, C... ORPHA:3261
Sweet Syndrome
Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Increased circulating interleuki... ORPHA:3243
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... OMIM:307200
Immunodeficiency 21
Anemia, Myeloid leukemia, Osteomyelitis, Monocytopenia, B lymphocytopenia, Reduced natural killer... OMIM:614172
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Thymoma
Decreased circulating antibody level, Rheumatoid arthritis, Anti-acetylcholine receptor antibody ... ORPHA:99867
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimmunity... OMIM:607944
Immunodeficiency 23
Neutropenia, Bronchiectasis, Allergic rhinitis, Asthma, Hemolytic anemia, Eczema, Membranoprolife... OMIM:615816
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Membranoprolifera... OMIM:619644
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune he... ORPHA:100026
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Bacterial Toxic-Shock Syndrome
Septic arthritis, Fasciitis, Myositis, Glomerulonephritis, Recurrent skin infections, Thrombocyto... ORPHA:36234
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... ORPHA:596
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, Panhypogammaglobulinemia, T lym... ORPHA:79124
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honeycombing, P... ORPHA:79126
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic bronchitis, Bronchiectasis, Decreased circulating antibody... OMIM:618131
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Granuloma, Autoimmunity, Pancytop... ORPHA:1855
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Pemphigus Erythematosus
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... ORPHA:79480
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Acute leukemia, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorde... ORPHA:3226
Good Syndrome
Anemia, Bronchiectasis, Decreased circulating antibody level, Dyspnea, Sinusitis, Cough, Recurren... ORPHA:169105
Thymic Aplasia
Chronic oral candidiasis, T lymphocytopenia, Coombs-positive hemolytic anemia, Thyroiditis, Atypi... ORPHA:83471
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Eryt... OMIM:603554
Thrombocytopenia 5
Epistaxis, Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency 40
Respiratory tract infection, Chronic oral candidiasis, T lymphocytopenia, Interstitial pneumoniti... OMIM:616433
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Panniculitis, Splenomegaly OMIM:618398
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Pleural effusion, Splenomeg... ORPHA:85414
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Lympho... ORPHA:139402
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... ORPHA:542323
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Chronic otitis media, Thrombocytopenia, Pneumonia, Splenomegaly ORPHA:169090
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Pancytopenia, Autoimmune antibody positivity, Epistaxis, Thrombocytope... ORPHA:88
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... OMIM:606763
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Adult-Onset Still Disease
Hepatitis, Skin rash, Pleuritis, Arthritis, Recurrent pharyngitis, Neutrophilia, Pericarditis, Re... ORPHA:829
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Hepatosplenomegaly, Recurrent aspiration pneumonia, Respiratory insufficienc... ORPHA:2590
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enterocolitis, Recurrent respiratory infections, Hypoplasia of the thymus, Decreased circulating ... OMIM:243150
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea, Neutropenia OMIM:618253
Autoimmune Polyendocrinopathy Type 4
Tubulointerstitial nephritis, Leukopenia, Abnormal pulmonary interstitial morphology, Atrophic ga... ORPHA:227990
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... ORPHA:420741
Bronchogenic Cyst
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... ORPHA:2357
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Colitis, Aplastic anemia, Splenome... ORPHA:2442
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, Enterocolitis, T lymphocytopenia, Bronchiectasis, Inflammatory a... ORPHA:391487
Autoimmune Polyendocrinopathy Type 3
Tubulointerstitial nephritis, Leukopenia, Abnormal pulmonary interstitial morphology, Atrophic ga... ORPHA:227982
Primary Ciliary Dyskinesia
Asplenia, Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Pol... ORPHA:244
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Neutrophilia, Increased circulating IgA level, Panniculitis, Increased circulating IgM... OMIM:617099
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Psoriasis 14, Pustular
Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Psoriasiform dermatitis OMIM:614204
Cryptococcosis
Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leukemia, Autoimmunity, R... ORPHA:1546
Nocardiosis
Brain abscess, Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumon... ORPHA:31204
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Respiratory tract infection, Brain abscess, Increased circulating ... ORPHA:544482
Psoriasis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Malar rash, Oligoarthritis, Abnormality of tumor necrosis factor secretion,... ORPHA:85436
Microsporidiosis
Brain abscess, Prostatitis, Myositis, Decreased proportion of CD4-positive helper T cells, Pneumo... ORPHA:2552
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Decreased circulating antibody level, Thyroiditis, Recurrent bronchitis, Recurren... ORPHA:293978
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Timothy Syndrome
Bronchitis, Pneumonia OMIM:601005
Bloom Syndrome
Bronchitis, Acute myeloid leukemia, Respiratory tract infection, Rhinitis, Decreased circulating ... ORPHA:125
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Osteomyelitis, Neutropenia, Anemia, Impa... ORPHA:811
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... ORPHA:48435
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Sple... OMIM:619381
Insulin-Resistance Syndrome Type B
Leukopenia, Skin rash, Autoimmunity, Nephritis, Systemic lupus erythematosus, Increased circulati... ORPHA:2298
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Listeriosis
Septic arthritis, Brain abscess, Pericarditis, Pneumonia, Abscess, Splenic abscess, Endocarditis,... ORPHA:533
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Coccidioidomycosis
Exudative pleural effusion, Pericarditis, Panniculitis, Eosinophilia, Pneumonia, Abscess, Osteomy... ORPHA:228123
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Respiratory distress, Pustule, Pulmonary fibr... OMIM:612852
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... ORPHA:2968
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Anemia, Brain abscess, Liver abscess, Neutrophilia, Abnormal lung morphology ORPHA:54251
Shigellosis
Conjunctivitis, Myocarditis, Arthritis, Microangiopathic hemolytic anemia, Abscess, Ulcerative co... ORPHA:810
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pneumonia, Nonproducti... ORPHA:97287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Relapsing Fever
Leukopenia, Anemia, Neutrophilia, Epistaxis, Cough, Leukocytosis, Thrombocytopenia ORPHA:91547
Hyper-Igd Syndrome
Lymphadenitis, Chronic oral candidiasis, Skin rash, Arthritis, Neutrophilia, Increased circulatin... OMIM:260920
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Zygomycosis
Brain abscess, Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Colitis, Splen... ORPHA:73263
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... ORPHA:98905
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Anemia, Increased circulating interleukin 6 concentration, Acute tu... ORPHA:340
Alpha-Mannosidosis, Adult Form
Pneumonia, Pancytopenia, Hepatosplenomegaly ORPHA:309288
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Aicardi-Goutieres Syndrome 7
Splenomegaly, Atrophic gastritis, Anemia, Hemolytic anemia, Increased circulating antibody level,... OMIM:615846
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosinophilia... ORPHA:449395
Familial Mediterranean Fever
Crohn's disease, Arthritis, Pleuritis, Neutrophilia, Erysipelas, Pericarditis, Pleural effusion, ... OMIM:249100
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia, Dyspnea, Increased m... OMIM:127550
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Tracheobronchial leiomyomatosis, Smooth muscle antibody positivity, Dyspnea... ORPHA:1018
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Idiopathic Hypereosinophilic Syndrome
Eczema, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Erythroderma, Colitis, Myeloprolifera... ORPHA:3260
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Irid... OMIM:181000
Gaucher Disease, Type Ii
Anemia, Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Thrombocytopenia, Bronchiolitis, S... OMIM:230900
Mirage Syndrome
Leukopenia, Anemia, Aspiration pneumonia, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Episodic tachypnea, Respiratory distress, Pneumonia, Tachypnea ORPHA:26793
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Normochromic anemia, Normocytic anemia ORPHA:247691
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Pneumonia, Anemia OMIM:603467
Bickerstaff Brainstem Encephalitis
Respiratory tract infection, Autoimmune antibody positivity, Hypercapnia, Dyspnea, Respiratory fa... ORPHA:79138
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respiratory infectio... ORPHA:354
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... ORPHA:70
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Geleophysic Dysplasia 3
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea OMIM:617809
Chops Syndrome
Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... OMIM:616368
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Increased red blood cell count, Granuloma, Pustule, Sinusitis, Infec... ORPHA:68
Cystic Fibrosis
Bronchiectasis, Asthma, Recurrent bronchopulmonary infections, Chronic sinusitis, Reduced forced ... 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
Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... ORPHA:99103
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... OMIM:253200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Conjunctivitis, Anemia, Rhinitis, Neutropenia, Inflammatory abnormality of the skin, Skin rash, K... ORPHA:95455
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Crimean-Congo Hemorrhagic Fever
Parotitis, Thrombocytopenia, Splenomegaly, Morbilliform rash, Epididymitis, Diffuse alveolar hemo... ORPHA:99827
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Pneumothorax, Pyoderma, Gastrointestinal inflammation, Respiratory distress, Dyspnea, Str... ORPHA:79404
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media, Pancytopenia, Hepatosplenomegaly ORPHA:309282
Mucopolysaccharidosis Type 3
Respiratory tract infection, Splenomegaly, Aspiration pneumonia, Recurrent sinopulmonary infectio... ORPHA:581
Neuroleptic Malignant Syndrome
Pulmonary embolism, Aspiration pneumonia, Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Cholera
Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Apnea, Air... OMIM:602535
Degcags Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Rhinitis, Asthma, Abnormal spleen morphology... OMIM:619488
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Thrombocytopenia, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis OMIM:301072
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea OMIM:619482
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... ORPHA:2020
Tay-Sachs Disease
Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Plague
Lymphadenitis, Endocarditis, Splenomegaly, Enterocolitis, Erythema nodosum, Skin rash, Inflammato... ORPHA:707
Liver Disease, Severe Congenital
Leukopenia, Anemia, Status asthmaticus, Pulmonary edema, Lymphocytosis, Eczema, Recurrent otitis ... OMIM:619991
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Neutrophilia, Acute pancreatitis, I... ORPHA:99829
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Asthma, Sleep apnea, Tracheomalacia, Chron... ORPHA:444077
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Hepatosplenomegaly, Bone-marrow foam cells, Abno... ORPHA:646
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Asthma, Otitis media, Pneumonia, Obstructive sleep apnea ORPHA:353281
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections OMIM:264090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Aspiration, Asthma, Otitis media, Pneumonia, Obstructive sleep ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Aspiration, Asthma, Otitis media, Pneumonia, Obstructive sleep ... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apne... ORPHA:438213
Semilobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93924
Doors Syndrome
Thrombocytosis, Aspiration pneumonia, Respiratory distress ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Pericarditis, Impaired neutrophil chemotaxis, Aspiration pneumonia, Respiratory distress 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.

Order Mouse and ES Cells

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

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter