Gene Summary

Name:
ubiquitin specific peptidase 13 (isopeptidase T-3)
Synonyms:
ISOT3,  2700071E21Rik,  IsoT-3

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Usp13tm1b(EUCOMM)Hmgu HOM Early adult 3.89×10-07
increased total body fat amount Usp13tm1b(EUCOMM)Hmgu HOM Early adult 4.58×10-07

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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.

DSS Histology

Images

8 Images

Legacy Phenotype Associated Images

Human diseases caused by Usp13 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 Usp13 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Disseminated nontubercu... ORPHA:319552
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Eczematoid dermatitis, Pneumonia OMIM:269840
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, Conjunctivitis, Pan... OMIM:601457
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Atelectasis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Immunodeficiency 104
Pneumonia, Recurrent opportunistic infections, Eczema, Otitis media, Failure to thrive secondary ... OMIM:608971
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Idiopathic Bronchiectasis
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Disseminated nontuberculous myc... OMIM:300636
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Bronchiectasis, Ost... OMIM:608184
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent abscess formation, Recurrent pneumonia, Recurrent infe... ORPHA:169160
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Immunodeficiency 27B
Osteomyelitis, Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurr... OMIM:615978
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Decreased circulating antib... OMIM:616576
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Scedosporiosis
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... ORPHA:449280
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Molluscum contagio... OMIM:618982
Immunodeficiency 14A, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased ci... OMIM:607271
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Cholangitis, Bronchiectasis, R... OMIM:615207
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Selective Igm Deficiency
Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections... ORPHA:331235
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:601495
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sinusitis, Sclerosing cholangitis, Recurrent viral in... ORPHA:572
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Persistent CMV viremia, Recurrent viral infections, Severe varicella zost... OMIM:300853
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Sinusitis, Pneumonia, Severe in... ORPHA:83471
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating antibody ... OMIM:616005
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Decreased circulating antibody... OMIM:617514
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Increased circulating IgM level, Recurrent b... ORPHA:2688
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Cutaneous abscess, Recurrent fun... OMIM:147060
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis, Agammaglobulinemia OMIM:619693
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased circulating Ig... OMIM:607676
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Stomatitis, Recurrent viral infections, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiectasis, Eczema, ... OMIM:618282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Recurrent viral infections, Recurrent mycobacterial infections, Colitis... ORPHA:911
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Meningitis, Recurrent respiratory infe... ORPHA:229717
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Infectious ... ORPHA:1163
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Inflammation of the large intestine, Bronchiectasis, Recurr... OMIM:618108
Immunodeficiency 75
Recurrent respiratory infections, Persistent EBV viremia, Bronchiectasis OMIM:619126
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Immunodeficiency 77
Cutaneous abscess, Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Nontuber... OMIM:619223
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough,... ORPHA:33110
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Persis... OMIM:619652
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Cough, Menin... ORPHA:3392
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Uveitis, Conjunctivitis, Recurrent pneum... OMIM:614700
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233710
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Panhypogammaglobulinemia, Pneumonia, Recurrent upper respiratory tract infections OMIM:602450
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, S... ORPHA:70587
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis... OMIM:613193
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Recurrent ear infections, Recurrent viral infections, Pneumonia, Perio... ORPHA:486
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Asthma, Increased circulati... OMIM:619632
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating IgA level, Seve... OMIM:606367
Immunodeficiency 58
Recurrent aphthous stomatitis, Esophagitis, Chronic mucocutaneous candidiasis, Recurrent pneumoni... OMIM:618131
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233690
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Recurre... OMIM:300755
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Melioidosis
Pneumonia, Unusual skin infection, Lung abscess, Parotitis, Cutaneous abscess, Prostatitis, Osteo... ORPHA:31202
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sclerosing cholangitis, Decreased circulating IgE, Increased cir... OMIM:308230
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Severe infection, Tachypnea, R... ORPHA:36238
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis, Incr... OMIM:618523
Sweet Syndrome
Increased circulating interleukin 6 concentration, Recurrent infections, Abnormal circulating int... ORPHA:3243
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Lymphadenitis, Recurrent viral ... ORPHA:331206
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Pgm3-Cdg
Esophagitis, Recurrent pneumonia, Recurrent skin infections, Increased circulating IgA level, Ecz... ORPHA:443811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Partial absence of ... OMIM:618986
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Sinusitis, Pneumonia, Recurrent viral infec... OMIM:102700
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Recurrent mycobacterial infections,... ORPHA:244
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increased circulatin... OMIM:615816
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:540
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgM level, Dysgammaglobulinemia, Increased circulating IgA level, Severe cy... OMIM:300291
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Bronchiolitis, Pneumonia OMIM:266265
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 62
Bronchiectasis OMIM:618459
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, R... OMIM:613179
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Pulmonary Non-Tuberculous Mycobacterial Infection
Disseminated nontuberculous mycobacterial infection, Crackles, Cough, Pleural effusion, Bronchiec... ORPHA:411703
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:306400
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Recurrent bacterial infections, Recurrent staphylococcal infections, Osteomyelitis... OMIM:116920
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Increased circulating IgM level, Increased inflammato... OMIM:209950
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Abnormal circulating interleukin concentration, Abnormal serum inter... ORPHA:79124
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis, Meningitis, Severe infection ORPHA:464370
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritoniti... ORPHA:228119
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Bacterial Toxic-Shock Syndrome
Severe infection, Tachypnea, Recurrent urinary tract infections, Hepatitis, Fasciitis, Skin rash,... ORPHA:36234
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Increased circulating IgG level, Increased... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, Meningitis, Panh... OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Decreased circulating ... OMIM:242860
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis, Epistaxis OMIM:612840
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hypoxemia... ORPHA:542323
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Decreased circulating antibody level, Recur... ORPHA:1572
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Chronic infection, Abnormal pleura morphology, Pulmonary cyst, Coug... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Recurrent aphthous stomatitis, Bronchiectasis, Chronic... OMIM:150550
Nocardiosis
Severe infection, Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Timothy Syndrome
Recurrent infections, Pneumonia, Bronchitis OMIM:601005
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Recurrent bronchopulmonary... OMIM:242700
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Iritis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Iridocycli... ORPHA:85436
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Dyspnea, Bronc... ORPHA:169105
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Infectious encephalitis, Tachypnea, Respiratory failur... ORPHA:454836
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Recurrent tonsillitis, Recurrent urinary tract infectio... ORPHA:125
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Respiratory failure requiring assisted ventilation, Recurrent aspiration pn... ORPHA:204
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Decreased circulating antibody level, Pulmonary embolism OMIM:226300
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Q Fever
Pneumonia, Unusual infection, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, My... ORPHA:781
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage OMIM:603585
Graft Versus Host Disease
Recurrent infections, Myositis, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormalit... ORPHA:39812
Vici Syndrome
Decreased circulating IgG level, Recurrent viral infections, Recurrent bacterial infections, Recu... OMIM:242840
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Severe infection, Pancreatitis, Res... ORPHA:544482
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurr... ORPHA:293978
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Bronchitis, Infectious encephalitis... ORPHA:2552
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Reduced circulating interferon gamma, Bronchiectasis OMIM:301220
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Periodontitis, Recurren... OMIM:608233
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointerstitial nephrit... ORPHA:139402
Alpha-Mannosidosis, Adult Form
Recurrent infections, Recurrent gastroenteritis, Pneumonia ORPHA:309288
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Omenn Syndrome
Thyroiditis, Pneumonia, Sepsis, Erythroderma ORPHA:39041
Mirage Syndrome
Aspiration pneumonia, Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Pulmonary arterial hypertension, Recurrent respiratory infections... OMIM:612541
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunctivitis, Chron... OMIM:158310
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections, Increased pulmonary vascular resistance, Dyspnea, Pulm... ORPHA:99104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Listeriosis
Pyelonephritis, Pneumonia, Unusual skin infection, Infectious encephalitis, Cholecystitis, Perito... ORPHA:533
Coccidioidomycosis
Increased circulating IgG level, Pneumonia, Erythema nodosum, Increased circulating IgM level, Ar... ORPHA:228123
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Bronchitis, Hip osteoarthritis, Lung abscess, Infe... ORPHA:1304
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Bron... ORPHA:97287
Chédiak-Higashi Syndrome
Recurrent infections, Recurrent streptococcal infections, Periodontitis, Recurrent bacterial infe... ORPHA:167
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Recurrent bacterial infections, Increased pulmonary vascular resis... ORPHA:99103
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Cough, Meningitis, Pleural effusion, Dyspnea, Osteomyelitis,... ORPHA:1546
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Recurrent abscess formation, Recurrent otitis media, Recurrent i... OMIM:619381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Abnormal serum interferon-gam... ORPHA:391487
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Zygomycosis
Invasive fungal infection, Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Unusua... ORPHA:73263
Immunodeficiency 47
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent infections, D... OMIM:300972
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Spondyloenchondrodysplasia
Recurrent infections, Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Restrictive ventilatory defect, Pneumonia, Rheumatoid arthritis, Recurren... OMIM:607944
Shwachman-Diamond Syndrome
Sinusitis, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Eczema, Osteomy... ORPHA:811
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Shigellosis
Uveitis, Pneumonia, Arthritis, Peritonitis, Myocarditis, Acute colitis, Sepsis, Ulcerative coliti... ORPHA:810
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Chediak-Higashi Syndrome
Recurrent infections, Periodontitis, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni... OMIM:214500
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormality of the skin, Pancreatiti... ORPHA:449395
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Severe cytomegalovirus infection, Recurrent bacterial infections, Ple... OMIM:619573
Sickle Cell Anemia
Recurrent bacterial infections, Hypoxemia OMIM:603903
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Aregenerative Anemia
Dyspnea, Abnormality of interleukin secretion ORPHA:101096
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
Glycogen Storage Disease Ib
Gout, Recurrent bacterial infections, Pancreatitis OMIM:232220
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Severe infection, Hypercapnia, Res... ORPHA:79138
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalveolar lavage fl... OMIM:181000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Inflammatory abnormality of the skin ORPHA:26793
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Gm1 Gangliosidosis
Infectious encephalitis, Aspiration pneumonia, Recurrent respiratory infections ORPHA:354
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Periodontitis, Recurrent bacterial infections, Inflammation of the large intestine, Thyroiditis, ... ORPHA:79259
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Pneumonia, Increased circulating IgA level, Osteoarthritis, Neph... ORPHA:2298
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Reduced forced vital... OMIM:219700
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Recurrent bacterial infections, Glomerulonephritis, Decr... ORPHA:470
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Unusual skin infection, Infectious encephalitis, Respiratory tract infectio... ORPHA:68
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia ORPHA:2135
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Alpha-Mannosidosis, Infantile Form
Recurrent infections, Pneumonia, Recurrent gastroenteritis, Recurrent urinary tract infections, O... ORPHA:309282
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Blepharitis, Uveitis, Scleritis, Recurrent bacterial infections, Episclerit... ORPHA:2273
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Respiratory tract infection, Upper airway obstruction, Obstructive sleep a... ORPHA:581
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Meningitis, Inflammation of... ORPHA:707
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Degcags Syndrome
Recurrent infections, Pneumonia, Tracheomalacia, Asthma, Pulmonary arterial hypertension, Rhiniti... OMIM:619488
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Recurrent urinary tract infections ORPHA:99027
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Sepsis, Pulmonary embolism ORPHA:94093
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent infections, Recurrent upper respiratory tract infections ORPHA:1465
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurrent urinary t... ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Asthma, Sleep apnea, Pulmonary arterial hypertension, Chronic lung disease, Aspir... ORPHA:444077
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Osteomyelitis, Fasciitis, Septic arthritis, Recurrent... ORPHA:642
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurre... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurre... ORPHA:353277
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Abnormal lung morphology, Respiratory failure ORPHA:646
Semilobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93924
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory insufficiency, Recurrent aspiration pn... OMIM:612289
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Obstructive sleep apnea, Breathing dysregulation, Apnea, As... ORPHA:438213
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Recurrent infections OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Respiratory distress, Pericarditis ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Usp13

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 Usp13.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Usp13tm1b(EUCOMM)Hmgu