Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
BPI fold containing family A, member 1
Synonyms:
SPLUNC1,  Plunc

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Bpifa1 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 Bpifa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Recurrent herpes, Herpes simplex encephalitis OMIM:610551
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Candidiasis, Familial, 4
Recurrent vulvovaginal candidiasis, Onychomycosis OMIM:613108
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... ORPHA:70592
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr... OMIM:614372
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Immunodeficiency 53
Recurrent otitis media, Recurrent infections, Recurrent respiratory infections OMIM:617585
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Monocyte and dendritic cell deficiency, autosomal recessive
Recurrent infections OMIM:614894
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 35
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Tuftsin Deficiency
Recurrent infections OMIM:191150
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinem... OMIM:612692
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Abnormal serum interleukin level, BCGosis, Severe toxop... ORPHA:319552
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Recurrent bacterial skin infections ORPHA:183713
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Recurrent res... OMIM:613502
Immunodeficiency 61
Recurrent otitis media, Recurrent sinusitis, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:300310
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections OMIM:608957
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurrent candida infections OMIM:269840
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:614868
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency 32A
Recurrent infections OMIM:614893
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu... OMIM:613493
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Pneumonia, Sinusitis, Decreased circulating IgG level, Otitis media OMIM:312863
Complement Factor B Deficiency
Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Recurrent infections, Anteverted nar... OMIM:614069
Acute Lung Injury
Dyspnea, Respiratory distress, Abnormality of serum cytokine level, Pneumonia, Hypoxemia, Abnorma... ORPHA:178320
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, High-frequency hearing impairm... OMIM:300455
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Purulent... OMIM:601457
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent upper and lower respiratory tract infect... OMIM:608106
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Recurrent infections, Sinusitis, Recurrent respiratory infections OMIM:226990
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Adult Acute Respiratory Distress Syndrome
Dyspnea, Abnormal serum interleukin level, Pneumonia, Hypoxemia, Abnormality of tumor necrosis fa... ORPHA:70578
Immune Deficiency Disease
Recurrent viral infections, Cholangitis, Fulminant hepatitis, Recurrent bacterial infections, Dec... OMIM:242850
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Chronic ... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections, Pneumoni... OMIM:608971
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency, Common Variable, 1
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Con... OMIM:607594
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti... ORPHA:275
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... OMIM:616726
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections OMIM:617014
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Respiratory tract infection, Wheezing, Dyspnea, Bron... ORPHA:60033
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Panhypo... OMIM:307200
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent bacterial infections, Ost... OMIM:608184
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615504
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Decreased circulating antibody level, Recurrent si... OMIM:616576
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Scedosporiosis
Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pneumonia, Pulmonary tuberculosis, ... ORPHA:449280
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Panhy... OMIM:209920
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Molluscum contagiosum, I... OMIM:618982
Severe Combined Immunodeficiency, X-Linked
Skin rash, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating IgE, Pneu... OMIM:300400
Tracheobronchomegaly
Diverticulosis of trachea, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections OMIM:613779
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Asthma OMIM:617638
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Tracheobronchopathia Osteochondroplastica
Esophagitis, Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Disseminated nontuberculous myco... OMIM:300636
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Recurrent urinary tract infecti... OMIM:300755
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:615505
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Skin rash, Recurrent Haemophilus influenzae infections, Recurrent opportunistic... ORPHA:276
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Bronchiectasis, Decreased circulating IgG2 level, Recurrent sino... OMIM:615513
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Specific Granule Deficiency 2
Recurrent bacterial infections, Recurrent otitis media, Abnormality of the pinna, Recurrent pneum... OMIM:617475
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Skin rash, Chronic hepatitis due to cryptosporidium infection, Recurrent fungal... ORPHA:572
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Increased circul... ORPHA:723
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Recurrent otitis media, Recurrent oral herpes, P... OMIM:619220
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Bronchiectasis, Decreased spec... OMIM:300853
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus... OMIM:147060
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Glomeruloneph... OMIM:613496
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Recurrent viral infections, Bulbous nose, Recurrent bacteri... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Decreased circulating IgE, Decreased circulating IgA level, Recu... OMIM:606843
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Wheezing, Cough ORPHA:930
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Ost... ORPHA:1163
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent fungal infections, Helicobacter pylori infection, Recu... ORPHA:2688
Immunodeficiency 52
Persistent EBV viremia, Bronchiectasis, Decreased circulating antibody level, Persistent CMV vire... OMIM:617514
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
Immunodeficiency 36
Decreased circulating antibody level, Recurrent respiratory infections, Bronchiectasis, Recurrent... OMIM:616005
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic mucocuta... OMIM:618282
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal resp... OMIM:612649
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615500
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Immunodeficiency 77
Recurrent tonsillitis, Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis, Bilatera... OMIM:619223
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Recurrent gastroenteritis, Stomatitis, Bronchiectasis OMIM:618648
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Sensorineural hearing impairment, Aspiration pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:609528
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Immunodeficiency 47
Decreased circulating antibody level, Sensorineural hearing impairment, Recurrent bacterial infec... OMIM:300972
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent infections, Decreased circ... OMIM:614878
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent upper and lowe... ORPHA:911
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Complement Factor I Deficiency
Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si... OMIM:610984
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Recurrent oti... OMIM:613193
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Absent outer dynein arms, Cough, Nasa... OMIM:616037
Isolated Agammaglobulinemia
Skin rash, Pneumonia, Recurrent respiratory infections, Meningitis, Inflammatory abnormality of t... ORPHA:229717
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Recurrent bacterial infections OMIM:616873
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Immunodeficiency 75
Persistent EBV viremia, Recurrent respiratory infections, Bronchiectasis OMIM:619126
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency 13
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent s... OMIM:615518
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:615444
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Recurrent respiratory infections, Conjunc... ORPHA:33110
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Ciliary Dyskinesia, Primary, 19
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent inner and... OMIM:614935
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Absen... OMIM:613807
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Conductive hearing impairment, Pneumonia ORPHA:85179
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Recurrent bacterial infec... ORPHA:51636
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Recurrent bacterial infections OMIM:610738
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent fungal infections, Chronic otitis media, Recurrent viral infections, Pneumonia, Meningi... ORPHA:169090
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Pneumonia, Recu... OMIM:614700
Autosomal Dominant Severe Congenital Neutropenia
Recurrent ear infections, Periodontitis, Pneumonia, Recurrent viral infections, Recurrent sinopul... ORPHA:486
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:606367
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233710
Immunodeficiency 60
Bronchiectasis, Pulmonary infiltrates, Decreased circulating IgE, Pulmonary fibrosis, Ulcerative ... OMIM:618394
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Maculopapular exanthema, Pneumonia, Onychomycosis... ORPHA:228119
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Decrease... OMIM:618131
Melioidosis
Prostatitis, Lung abscess, Respiratory tract infection, Cutaneous abscess, Unusual skin infection... ORPHA:31202
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, ... ORPHA:70587
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Sensorineural hearing impairment, Increased circulating IgG le... ORPHA:443811
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Conductive hearing impairment, Cough, Chronic otitis media, Absent inner and oute... OMIM:618063
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:616100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Anomalous pulmonary venous return, ... ORPHA:244
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent Staphylococcus aureus infections, Eczematoid dermatit... OMIM:306400
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgM level, Decreased circulating IgE, Sclerosing cholangitis, Stomatitis, C... OMIM:308230
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgM level, Increased circulating IgE level, Bronchiectas... OMIM:615816
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn... ORPHA:3243
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur... OMIM:618523
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Complement Component 5 Deficiency
Recurrent meningococcal disease OMIM:609536
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Immunodeficiency 27A
Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum... OMIM:209950
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, R... ORPHA:331206
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Chr... OMIM:618986
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Cough, Emphysema, Uveitis, ... ORPHA:36412
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Increased serum interferon-gamma level, Erythroderma, Decreased circulating antibody l... ORPHA:540
Omenn Syndrome
Recurrent fungal infections, Erythroderma, Recurrent viral infections, Pneumonia, Recurrent bacte... OMIM:603554
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Decreased circulating IgA... OMIM:242860
Neonatal Alloimmune Neutropenia
Severe infection, Meningitis, Sepsis, Pneumonia ORPHA:464370
Immunodeficiency 62
Bronchiectasis OMIM:618459
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Hearing impairment, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Nasal polyp... OMIM:244400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Recurrent fungal infections, Decreased circulating IgG2 level, P... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent urina... OMIM:613179
Avian Influenza
Ground-glass opacification, Myelitis, Respiratory distress, Dyspnea, Pleural effusion, Cough, Non... ORPHA:454836
Leukocyte Adhesion Deficiency, Type I
Recurrent staphylococcal infections, Periodontitis, Recurrent bacterial infections, Osteomyelitis... OMIM:116920
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Severe cytomegalovirus infection... OMIM:300291
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, An... OMIM:300209
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Bronchiectasis, Decreased circulating antib... ORPHA:1572
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Abnormal serum interleukin level, Recurrent gastroenteritis, Recurrent ente... ORPHA:79124
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Broad nasal tip, Decreased specific antibo... ORPHA:221139
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent otitis media, Panhypogammaglobulinemia, P... OMIM:600802
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Recurrent skin infections, Epistaxis, Recurrent bacterial infections OMIM:612840
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Osteomyelitis, E... ORPHA:31204
Timothy Syndrome
Bronchitis, Recurrent infections, Pneumonia, Depressed nasal bridge OMIM:601005
Immunodeficiency 64
Increased circulating IgM level, Bronchiectasis, Increased circulating IgG level, Recurrent infec... OMIM:618534
Riddle Syndrome
Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Bronc... ORPHA:420741
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Bronchiectasis, Recurrent infections, Recurrent pneumonia, Recurrent ap... OMIM:150550
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infections... OMIM:242700
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Transient pulmonary... ORPHA:70588
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia, Myositis, Eczema, Osteom... ORPHA:37042
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Iridocyclitis, Iritis, Uveitis, Abnormality of tumor necrosis factor secretion, Sacroi... ORPHA:85436
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Recurrent urinary tract inf... ORPHA:169105
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol... OMIM:600903
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Recurrent g... ORPHA:39812
Bloom Syndrome
Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Otitis media, Rec... ORPHA:125
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation, Recur... ORPHA:204
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Rhinorrhea, Hearing impairment, Chronic rhinitis OMIM:617577
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Respiratory f... ORPHA:2590
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Pneumonia, Sinusitis, Myocarditis, Myositis, Osteomyelit... ORPHA:2552
Slc35A1-Cdg
Pulmonary hemorrhage, Hypoxemia, Pneumonia, Respiratory distress ORPHA:238459
Oculopharyngodistal Myopathy
Progressive sensorineural hearing impairment, Restrictive ventilatory defect, Respiratory insuffi... ORPHA:98897
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG2 level, Recurrent viral infections, Sensor... OMIM:242840
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Pulmonary embolism, Recurrent infections, Pneumonia OMIM:226300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Colitis, Increased circulating interleukin 8, Recurrent pneumonia, Reduced circul... OMIM:301220
Q Fever
Endocarditis, Pericarditis, Respiratory distress, Cholecystitis, Increased circulating antibody l... ORPHA:781
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Pleuritis, Dyspnea, Severe viral infection, Pneumonia... ORPHA:544482
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent bronchitis, Bronchiectasis, Recurrent upper respiratory tract infections, Decreased cir... ORPHA:293978
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Erythroderma, Cough, Hepatiti... ORPHA:139402
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Aspiration pneumonia, Agam... ORPHA:52368
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Alpha-Mannosidosis, Adult Form
Recurrent infections, Mixed hearing impairment, Pneumonia, Recurrent gastroenteritis ORPHA:309288
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Pulmonary fibrosis, Periodontitis, Recurrent otitis media, Wide nasal b... OMIM:608233
Coccidioidomycosis
Peritonitis, Skin rash, Coccidioidal meningitis, Pericarditis, Cough, Pneumonia, Increased circul... ORPHA:228123
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Recurrent bacterial infections OMIM:603585
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Respiratory insufficiency, Wide nasal bridge, Hearing impairment, Recurrent bacterial infections,... OMIM:612541
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Omenn Syndrome
Thyroiditis, Sepsis, Erythroderma, Pneumonia ORPHA:39041
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Chromomycosis
Keratoconjunctivitis sicca, Keratitis, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Osteomyelitis, Endocarditis, Respiratory distr... ORPHA:533
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Abnormal pulmonary interstitial ... ORPHA:97287
Roifman-Chitayat Syndrome
Depressed nasal bridge, Pneumonia, Wide nasal bridge, Arthritis OMIM:613328
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Aspiration pneumonia, Recurrent bacterial infections OMIM:617053
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Fibrocystic lung d... OMIM:158310
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic lung disease, Malar rash, P... OMIM:210900
Cryptococcosis
Peritonitis, Prostatitis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodu... ORPHA:1546
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Anterior uveitis, Myocarditis, Osteomye... ORPHA:1304
Mannosidosis, Alpha B, Lysosomal
Decreased circulating antibody level, Sensorineural hearing impairment, Recurrent bacterial infec... OMIM:248500
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Recurrent bacterial infections OMIM:241410
Nijmegen Breakage Syndrome
Recurrent bronchitis, Bronchiectasis, Macrotia, Recurrent urinary tract infections, Choanal atres... OMIM:251260
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Zygomycosis
Peritonitis, Pericarditis, Cough, Sinusitis, Myocarditis, Air crescent sign, Endocarditis, Epista... ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Recurrent Aspergillus infections, Bronchiectasis, Recurrent upper respiratory t... ORPHA:391487
Chops Syndrome
Short nose, Laryngomalacia, Hearing impairment, Chronic lung disease, Aspiration pneumonia, Trach... OMIM:616368
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Chédiak-Higashi Syndrome
Skin rash, Recurrent streptococcal infections, Recurrent staphylococcal infections, Pleural effus... ORPHA:167
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca, Anteverted nares, Wide nose OMIM:616260
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurrent infections ORPHA:79243
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Shwachman-Diamond Syndrome
Skin rash, Pneumonia, Recurrent viral infections, Hearing impairment, Sinusitis, Eczema, Sepsis, ... ORPHA:811
Spondyloenchondrodysplasia With Immune Dysregulation
Restrictive ventilatory defect, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis... OMIM:607944
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis, Recurrent infections, Arthritis ORPHA:1855
Shigellosis
Peritonitis, Acute colitis, Uveitis, Pneumonia, Ulcerative colitis, Conjunctivitis, Myocarditis, ... ORPHA:810
Hennekam-Beemer Syndrome
Conductive hearing impairment, Pneumonia, Respiratory insufficiency, Wide nasal bridge, Hearing i... ORPHA:2135
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pleuritis, Pericarditis, Interstitial pneumonitis, Urinary blad... ORPHA:449395
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Chediak-Higashi Syndrome
Recurrent systemic pyogenic infections, Spontaneous, recurrent epistaxis, Recurrent bacterial ski... OMIM:214500
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Restrictive ventilatory defect, Iridocyclitis, Dyspnea, Bron... OMIM:181000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Abnormal respiratory system morphology, Tracheobronchial leiomyomatosis, Cough, Keratiti... ORPHA:1018
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Sepsis, Pneumonia ORPHA:247691
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia, Laryngeal stridor ORPHA:53351
Cystic Fibrosis
Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chroni... OMIM:219700
Gm1 Gangliosidosis
Macrotia, Aspiration pneumonia, Encephalitis, Broad nasal tip, Recurrent respiratory infections, ... ORPHA:354
Glycogen Storage Disease Ib
Gout, Pancreatitis, Recurrent bacterial infections OMIM:232220
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Inflammatory abnormality of the skin ORPHA:26793
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:258865
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Recurrent gastroenteritis, Recurrent urinary tract infections,... ORPHA:309282
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Sickle Cell Anemia
Hypoxemia, Recurrent bacterial infections OMIM:603903
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Pyoderma, Pneumonia, Recur... ORPHA:79404
Mucopolysaccharidosis Type 3
Respiratory tract infection, Thickened helices, Abnormality of the middle ear ossicles, Recurrent... ORPHA:581
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Thyroiditis, Periodontitis, Ulcerative colitis, Epistaxis, G... ORPHA:79259
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Increased circulating IgG level, Increased circulating IgA level, Osteoarth... ORPHA:2298
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Respiratory distress, ... ORPHA:707
Ataxia-Telangiectasia
Recurrent bronchitis, Bronchiectasis, Decreased circulating IgG2 level, Decreased circulating IgA... OMIM:208900
Amoebiasis Due To Free-Living Amoebae
Pustule, Respiratory tract infection, Unusual skin infection, Pneumonia, Encephalitis, Sinusitis ORPHA:68
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia ORPHA:1136
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Decreased circulating antibody level, Increased circulat... ORPHA:470
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Scleritis, Macrotia, Uveitis, Choanal atresia, Cheilitis, Conjunctivitis, Keratitis, Episcleritis... ORPHA:2273
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal bronchus morphology, Gastrointestinal inflammation, Skin rash, Respiratory distress, Cou... ORPHA:95455
Fanconi Anemia, Complementation Group F
Conductive hearing impairment, Pneumonia, Microtia OMIM:603467
Marshall-Smith Syndrome
Apnea, Obstructive sleep apnea, Short nose, Overfolded helix, Choanal atresia, Laryngomalacia, He... OMIM:602535
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Cornelia De Lange Syndrome 1
Conductive hearing impairment, Abnormal incisura morphology, Choanal atresia, Pneumonia, Sensorin... OMIM:122470
Coffin-Siris Syndrome
Short nose, Recurrent upper respiratory tract infections, Hearing impairment, Recurrent infection... ORPHA:1465
Gm1 Gangliosidosis Type 1
Macrotia, Hearing impairment, Aspiration pneumonia, Broad nasal tip, Depressed nasal bridge ORPHA:79255
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Overfolded helix, Low-set, posteriorly rotated ears, Chronic lung disease, Tachypnea, Recu... ORPHA:397715
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Short nose, Conductive hearing impairment, Low-set, posteriorly rotated ears, Trache... ORPHA:444077
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Recurrent urinary tract infections, Sensorineural hearing im... ORPHA:99027
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Anteverted nares ORPHA:73230
Neuroleptic Malignant Syndrome
Pulmonary embolism, Sepsis, Aspiration pneumonia ORPHA:94093
Dyskeratosis Congenita, Autosomal Dominant 1
Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Bronchiectasis, Urinary bladder inflammation, Cough, Pleural effusion, Keratoc... ORPHA:99921
Tay-Sachs Disease
Hearing impairment, Aspiration pneumonia ORPHA:845
Miller-Dieker Lissencephaly Syndrome
Short nose, Wide nasal bridge, Posteriorly rotated ears, Recurrent aspiration pneumonia, Antevert... OMIM:247200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Recurrent urinary tract infections, Pneumonia, Otitis media, Senso... ORPHA:353281
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Anteverted nares, Overfolded helix, Prominent superior crus of antihelix, Peripheral ... ORPHA:280633
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aspiration, Conductive hearing impairment, Laryngeal cartilage malformation, Recurrent urinary tr... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aspiration, Conductive hearing impairment, Laryngeal cartilage malformation, Recurrent urinary tr... ORPHA:353284
Opitz Gbbb Syndrome
Laryngeal cleft, Tracheomalacia, Wide nasal bridge, Posteriorly rotated ears, Hearing impairment,... ORPHA:2745
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Septic arthritis, Fasciitis, Recurrent aspiration pne... ORPHA:642
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Hearing impairment, Respiratory failure, Asp... ORPHA:646
Semilobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Sensorineural hearing impairment, Aspiration pneu... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Sensorineural hearing impairment, Aspiration pneu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Sensorineural hearing impairment, Aspiration pneu... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Sensorineural hearing impairment, Aspiration pneu... ORPHA:93924
Fontaine Progeroid Syndrome
Short nose, Conductive hearing impairment, Respiratory insufficiency, Posteriorly rotated ears, P... OMIM:612289
Doors Syndrome
Respiratory distress, Bulbous nose, Atresia of the external auditory canal, Wide nasal bridge, As... ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Obstr... ORPHA:438213
Kabuki Syndrome 1
Macrotia, Recurrent otitis media, Wide nasal bridge, Posteriorly rotated ears, Hearing impairment... OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pmm2-Cdg
Respiratory distress, Pericarditis, Macrotia, Abnormality of the pinna, Aspiration pneumonia, Pro... 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 Bpifa1

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 Bpifa1.

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

Title Journal IMPC Allele PubMed ID
SPLUNC1 deficiency enhances airway eosinophilic inflammation in mice. American journal of respiratory cell and molecular biology (April 2012) Bpifa1tm1(KOMP)Vlcg PMC3423460
SPLUNC1 promotes lung innate defense against Mycoplasma pneumoniae infection in mice. The American journal of pathology (May 2011) Bpifa1tm1(KOMP)Vlcg PMC3081195

Order Mouse and ES Cells

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

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

MGI Allele Allele Type Produced
Bpifa1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Bpifa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

The IMPC Newsletter

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

Subscribe to newsletter