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 A FCS file(s)

6 Images

Immunophenotyping

Panel B 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 53
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Re... OMIM:617585
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Antinuclear antibody positivity, ... OMIM:613495
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Recurrent sinopulmonary infections, Decreased circu... OMIM:609529
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc... OMIM:312863
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti... ORPHA:90283
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory i... OMIM:300988
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab... OMIM:618806
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Systemic lupus erythematosus, Recurrent otitis media, Respiratory tr... ORPHA:444463
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re... OMIM:619220
Immunodeficiency 62
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c... OMIM:618459
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Recurrent bronchitis, Nephritis, Autoimmunity OMIM:216950
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum, Recur... OMIM:615214
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Bronchiectasis, Autoimmunity, Bronchiolitis obliterans ORPHA:1303
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Eczematoid ... OMIM:269840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, Neutrophilia, T... OMIM:226990
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, T lymphocytopen... OMIM:608971
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Activated Pi3K-Delta Syndrome
Recurrent otitis media, B lymphocytopenia, Arthritis, Decreased circulating antibody level, Bronc... ORPHA:397596
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased circ... OMIM:619281
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
C1Q Deficiency 2
Recurrent otitis media, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Malar ... OMIM:620321
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 52
Abnormal natural killer cell count, Decreased circulating antibody level, T lymphocytopenia, Bron... OMIM:617514
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, Si... ORPHA:277
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Rheumatoid facto... OMIM:209950
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Increased circulating ... OMIM:618534
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, ... OMIM:619707
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibody positivity ORPHA:464370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportio... OMIM:615518
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Antiphospholipid antibody pos... ORPHA:90280
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia ORPHA:70592
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent respirat... OMIM:300853
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating interleukin 6... ORPHA:158061
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi... OMIM:266265
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Anti-dsD... OMIM:619375
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Iron deficiency anemia, Plat... OMIM:601859
Systemic Lupus Erythematosus
Pleuritis, Malar rash, Arthritis, Antiphospholipid antibody positivity, Pericarditis, Nephritis, ... OMIM:152700
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Splenomegal... OMIM:618495
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Recurrent sinopulmonary i... OMIM:616740
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Antineutrophil antibody positivity, Acute myeloid leukemia, Recurrent aphthous s... ORPHA:486
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections, Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Bronchiectasis, Autoim... OMIM:608184
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of cla... OMIM:619126
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Crohn's disease, Arthr... OMIM:616100
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Lymph... OMIM:619652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Neutropenia, Recurrent aphthous stomatitis, B lymphocytopenia, Recurren... OMIM:150550
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Absent isohemagglutinin level, Recurrent low... OMIM:615559
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Leukopenia, Systemic lupus erythemato... OMIM:616871
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage colony stimula... OMIM:610910
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ... ORPHA:85410
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Splenomegaly, Hype... OMIM:615387
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase... ORPHA:178320
Aicardi-Goutieres Syndrome 6
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... OMIM:615010
Microlissencephaly
Pneumonia ORPHA:1083
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Bronchiol... OMIM:614878
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circul... ORPHA:70578
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Recurre... OMIM:614069
Immune Dysregulation, Autoimmunity, And Autoinflammation
Antinuclear antibody positivity, Increased circulating interleukin 6 concentration, Anemia, Incre... OMIM:620514
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf... OMIM:614868
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased ci... OMIM:601495
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ... ORPHA:572
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Psoriasiform dermatitis, Neutropenia, Thyroiditis, Pneumonia, Autoimmune thrombocyt... ORPHA:37042
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Felty Syndrome
Chronic otitis media, Anemia, Recurrent pharyngitis, Pleuritis, Arthritis, Abnormal lymphocyte mo... ORPHA:47612
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Recurrent lower respiratory tract infections, Incre... ORPHA:169154
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Q Fever
Increased circulating antibody level, Granuloma, Pericarditis, Splenomegaly, Cholecystitis, Myoca... ORPHA:781
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Arthritis, Rheumatoid factor positive, Synovitis, Abnormal circulating i... ORPHA:85435
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, ... ORPHA:3261
Pneumocystosis
Chronic oral candidiasis, Abnormal neutrophil count, Increased circulating antibody level, Acute ... ORPHA:723
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Decreased circul... OMIM:613011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... ORPHA:443811
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Agammaglobulinemia, Sinusitis, Conjunctivitis, Bronch... ORPHA:33110
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Pneumonia, Abnormal immunoglobulin level, Decreased proportion of CD3-p... ORPHA:276
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, T lymphocytopenia, Sinusitis, Increased circulating IgM level, Bronchiectasis, Reduced... OMIM:242860
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Recurrent pharyngitis, Pancytopenia, Lym... OMIM:308240
Immunodeficiency 43
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Decreased circulating IgG level,... OMIM:241600
Diffuse Alveolar Hemorrhage
Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive, Thrombocy... ORPHA:90060
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent respiratory infections, Recurrent bronchitis, Decrease... ORPHA:1572
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytope... OMIM:242700
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Arthritis, Skin rash, Sinusitis, Abnormal lung morphology, Recurren... ORPHA:47
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenomegaly, Pn... ORPHA:39041
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Panniculitis, Recurrent lower respiratory tract infections, Dec... OMIM:615758
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelit... ORPHA:31202
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulat... OMIM:602450
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Neoplasm of the lung, Acute lymph... ORPHA:158057
Sweet Syndrome
Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, Myosit... ORPHA:3243
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h... OMIM:307200
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, B lymphocytopenia, Optic neuritis, Decreased circu... OMIM:301081
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449400
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Splenomegaly, Panacinar emphysema OMIM:613490
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Bronchiolitis obliterans, Neut... OMIM:300755
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615500
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Minimal ch... OMIM:620565
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... OMIM:619644
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Recurrent respiratory infections, Skin rash, Abnormal lympho... ORPHA:100026
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency 23
Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:615816
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Increased circulating inte... ORPHA:540
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Recurrent otitis media, Recurrent respiratory infections, Juvenile ... OMIM:607944
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern, Autoimmune antibody positivity ORPHA:264675
Pemphigus Erythematosus
Malar rash, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-acetylcholine rec... ORPHA:79480
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Ciliary Dyskinesia, Primary, 14
Polysplenia, Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections,... OMIM:613807
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Neoplasm of the lung, Rheumatoid... ORPHA:99867
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... OMIM:612650
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Eosinophilic granuloma, T... OMIM:616433
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Asplenia, Bronchiectas... OMIM:244400
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Decreased proportion of naive T cell... ORPHA:83471
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly, Anterior uveitis, Autoimmunit... ORPHA:85414
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA antibody pos... ORPHA:1855
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Brucellosis
Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc... ORPHA:1304
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Autoimmunity OMIM:618398
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Antiphospholipi... ORPHA:391487
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Myositis, Arthritis, Skin rash, Increased circulating myelocyte count, He... ORPHA:36234
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Myeloproliferative disorder, Leu... ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Thrombocytopenia, Splenomegaly, Pneumonia, Autoimmunity, Hemolytic anemia ORPHA:169090
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Anemia, Splenomegaly, Recurrent upper respiratory tract infections OMIM:620296
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith... ORPHA:227982
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Good Syndrome
Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy... ORPHA:169105
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Perinuclear antineutrophil antibody positivity, Bronchiectas... ORPHA:60
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pustule, Infectious... ORPHA:139402
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Bronchiectasis, Rheumatoid arthritis, Autoimmune antibody posit... ORPHA:79128
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615444
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... OMIM:616037
Avian Influenza
Pneumothorax, Myelitis, Lymphopenia, Pleural effusion, Thrombocytopenia, Leukopenia, Conjunctivit... ORPHA:454836
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Graft Versus Host Disease
Gastrointestinal inflammation, Hemophagocytosis, Inflammatory abnormality of the eye, Stomatitis,... ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia, Neutropenia OMIM:618253
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Skin rash, Increased circulating IgA ... OMIM:617099
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Increased circulating interleukin 6 concentration, Pleuritis, Acute co... ORPHA:544482
New-Onset Refractory Status Epilepticus
Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve... ORPHA:420741
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Abnormal lymphocyte morpholo... ORPHA:293978
Microsporidiosis
Bronchitis, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Bronchiolitis, Nephritis, Pneumonia... ORPHA:2552
Adult-Onset Still Disease
Myocarditis, Anemia, Pleuritis, Arthritis, Skin rash, Leukocytosis, Pericarditis, Arthralgia/arth... ORPHA:829
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Bronchiectasis, Interlobular septal thickening... ORPHA:79126
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Antinuclear anti... ORPHA:85436
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Acute Generalized Exanthematous Pustulosis
Cheilitis, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutrophilia, Con... ORPHA:293173
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen... ORPHA:811
Bloom Syndrome
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-po... ORPHA:125
Postinfectious Vasculitis
Gastrointestinal inflammation, Increased circulating antibody level, Bacterial endocarditis, Arth... ORPHA:48435
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Skin rash, Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating to... OMIM:619381
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ciliary Dyskinesia, Primary, 2
Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis OMIM:606763
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgG level, Skin rash, Increased circulating I... ORPHA:2298
Cryptococcosis
Pneumonia, Prostatitis, Pleural effusion, Peritonitis, Systemic lupus erythematosus, Lymphoid leu... ORPHA:1546
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph... OMIM:158310
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lung morphology, Neutrophilia, Brain abscess ORPHA:54251
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pneumonitis, Gr... ORPHA:454831
Shigellosis
Myocarditis, Acute colitis, Arthritis, Splenic abscess, Leukocytosis, Conjunctivitis, Thrombocyto... ORPHA:810
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Abscess, Osteomye... OMIM:612852
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Listeriosis
Myocarditis, Peritonitis, Liver abscess, Pyelonephritis, Arteritis, Splenic abscess, Abnormal cel... ORPHA:533
Nocardiosis
Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymp... ORPHA:31204
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Cryptogenic Organizing Pneumonia
Pneumothorax, Neutrophilia, Leukocytosis ORPHA:1302
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Skin rash, Increased circulating IgA level, Leukocytosis, Ly... OMIM:260920
Congenital Syphilis
Myocarditis, Anemia, Pancreatitis, Synovitis, Rhinitis, Thrombocytopenia, Hepatosplenomegaly, Ker... ORPHA:499009
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Sinusitis, Impaired neutrophil chemotaxis, Chronic oral c... ORPHA:2968
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Alpha-Mannosidosis, Adult Form
Pneumonia, Hepatosplenomegaly, Pancytopenia ORPHA:309288
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Zygomycosis
Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a... ORPHA:73263
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Aicardi-Goutieres Syndrome 7
Anemia, Recurrent lower respiratory tract infections, Increased circulating antibody level, Pancy... OMIM:615846
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Familial Mediterranean Fever
Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Pericarditis, Erysipelas, ... OMIM:249100
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, B lymphocytopenia, Arthritis, Decrease... ORPHA:221139
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Mirage Syndrome
Anemia, Aspiration pneumonia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, Leukopenia,... OMIM:127550
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Anemia, Acute tubulointerstitial nephritis, Increased circulating interleukin 6 ... ORPHA:340
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Normocytic anemia, Normochromic anemia, Skin rash ORPHA:247691
Fanconi Anemia, Complementation Group F
Pneumonia, Thrombocytopenia, Leukopenia, Anemia OMIM:603467
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Anti-smooth muscle antibody positivity, Aspiration pneumonia, Keratitis, Tracheobronchial leiomyo... ORPHA:1018
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Recurrent respiratory infections, Infecti... ORPHA:354
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Idiopathic Hypereosinophilic Syndrome
Anemia, Cholangitis, Pancreatitis, Arthritis, Myeloproliferative disorder, Leukocytosis, Pleural ... ORPHA:3260
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Panc... OMIM:181000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Gaucher Disease, Type Ii
Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Increased red blood cell count, Granuloma, Sinusitis, Pustule, Respiratory tract infection, Pneum... ORPHA:68
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si... OMIM:615067
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Bickerstaff Brainstem Encephalitis
Pneumonia, Autoimmune antibody positivity, Respiratory tract infection ORPHA:79138
Chops Syndrome
Anomalous pulmonary venous return, Splenomegaly, Aspiration pneumonia OMIM:616368
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Alpha-Mannosidosis, Infantile Form
Pneumonia, Hepatosplenomegaly, Otitis media, Pancytopenia ORPHA:309282
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections OMIM:253200
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Mucopolysaccharidosis Type 3
Chronic otitis media, Aspiration pneumonia, Respiratory tract infection, Recurrent sinopulmonary ... ORPHA:581
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Pancytopenia, Increased circulating IgG level, Parotitis, Acute p... ORPHA:99827
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Neuroleptic Malignant Syndrome
Thrombocytosis, Thrombocytopenia, Leukocytosis, Aspiration pneumonia ORPHA:94093
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Anemia, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnorm... ORPHA:95455
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Aspiration pneumonia OMIM:301072
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Degcags Syndrome
Anemia, Iron deficiency anemia, Pancytopenia, Abnormal spleen morphology, Rhinitis, Leukopenia, H... OMIM:619488
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections OMIM:602535
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Leukocytosis, I... ORPHA:99829
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Pyoderma, Anemia, Pneumonia, Recurrent skin infections ORPHA:79404
Cholera
Aspiration pneumonia ORPHA:173
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Acute promyelocytic leukemia, Thrombocytopenia, Splen... ORPHA:77293
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia ORPHA:397715
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Plague
Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Skin rash,... ORPHA:707
Liver Disease, Severe Congenital
Pulmonary edema, Recurrent otitis media, Anemia, Lymphocytosis, Chronic gastritis, Eczematoid der... OMIM:619991
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia ORPHA:280633
Niemann-Pick Disease Type C
Bone-marrow foam cells, Aspiration pneumonia, Abnormal lung morphology, Hepatosplenomegaly, Splen... ORPHA:646
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Recurrent aspiration pneumonia, Conjunctivitis, Rec... OMIM:616268
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections, Hypoplasia of the thymus OMIM:264090
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353277
Kabuki Syndrome 1
Autoimmune thrombocytopenia, Recurrent otitis media, Recurrent aspiration pneumonia, Hemolytic an... OMIM:147920
Hereditary Sensory And Autonomic Neuropathy Type 4
Anemia, Tooth abscess, Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Abscess, Oste... ORPHA:642
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia OMIM:612289
Doors Syndrome
Thrombocytosis, Aspiration pneumonia ORPHA:79500
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Aspiration pneumonia ORPHA:438213
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Impaired neutrophil chemotaxis, Aspiration pneumonia, 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.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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