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Gene: Sftpa1 MGI:109518

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
surfactant associated protein A1
Synonyms:
surfactant pulmonary associated protein A1,  SP-A,  Sftp1,  Sftp-1,  SFTPA1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Sftpa1 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.

The table below shows human diseases associated to Sftpa1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Decreased DLCO, Cough, Usual inter... OMIM:178500

The table below shows human diseases predicted to be associated to Sftpa1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent pneumonia, Recurrent otitis media OMIM:243110
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningococcal disease, Diss... OMIM:614372
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
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 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent abscess format... OMIM:613860
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent respiratory infections, Recurrent... OMIM:613501
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia OMIM:613494
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections OMIM:614868
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 104
Otitis media, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Pneu... OMIM:608971
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615294
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chron... OMIM:612444
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... OMIM:605258
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... OMIM:613500
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts OMIM:219600
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Meningitis, Pneum... OMIM:601457
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Recurrent viral infections, Stomatitis, Recurrent gastroenteritis OMIM:618648
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia OMIM:269840
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... ORPHA:1303
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media, Conjunctivitis, Recu... OMIM:613493
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis OMIM:620032
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis, Cholangitis OMIM:242850
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Chronic sinusitis, Recurrent pneumonia, Rec... OMIM:612692
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Complement Component 4B Deficiency
Asthma, Chronic active hepatitis, Recurrent sinusitis, Meningitis, Recurrent pneumonia, Recurrent... OMIM:614379
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media OMIM:613502
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, P... OMIM:607594
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Recurrent infections, Pneumonia OMIM:614069
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacter... OMIM:243700
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections OMIM:193670
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... OMIM:240500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuber... OMIM:619223
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections OMIM:609536
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... OMIM:618699
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restric... OMIM:610910
Immunodeficiency 62
Bronchiectasis OMIM:618459
Thymic Aplasia
Recurrent candida infections, Sinusitis, Recurrent streptococcus pneumoniae infections, Recurrent... ORPHA:83471
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Immunodeficiency 75
Bronchiectasis, Recurrent respiratory infections, Persistent EBV viremia OMIM:619126
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... OMIM:616576
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615500
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Colitis, Viral hepatitis, Recurrent ... OMIM:209920
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... OMIM:618282
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent skin infections, Recurrent urinary tract... OMIM:610984
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Otitis media, Hepatitis, Recurrent infect... ORPHA:169160
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumon... OMIM:613808
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chroni... OMIM:612650
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira... OMIM:614679
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent candida infections, Sinusitis, Recurrent fungal infecti... ORPHA:572
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Severe varicella zoster infection, Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis me... OMIM:300853
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract i... OMIM:619446
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Pneumonia, Recurrent p... ORPHA:3348
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C... OMIM:619632
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Recurrent infections, Recurrent otitis media, Bronchiectasis, Mollus... OMIM:618982
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Sepsis, Arthritis, Meningitis, Pneumonia, Inflammatory abnorm... ORPHA:229717
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... ORPHA:90117
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... ORPHA:169090
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis,... OMIM:147060
Immunodeficiency 52
Chronic lung disease, Recurrent infections, Recurrent pneumonia, Bronchiectasis, Persistent EBV v... OMIM:617514
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ly... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ly... OMIM:233710
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media,... OMIM:601495
Pneumocystosis
Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory i... ORPHA:723
Severe Combined Immunodeficiency, X-Linked
Recurrent fungal infections, Chronic oral candidiasis, Skin rash, Recurrent pneumonia, Pneumonia,... OMIM:300400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... ORPHA:79127
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia OMIM:604809
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Cough, Wheezing, Ciliary dyskinesia, Chronic si... OMIM:613807
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... OMIM:614017
Acute Lung Injury
Respiratory distress, Increased circulating surfactant protein level, Elevated circulating C-reac... ORPHA:178320
Microlissencephaly
Pneumonia ORPHA:1083
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract i... OMIM:615139
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent lower respiratory tract infections, Recurrent otitis media, Bron... OMIM:619220
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615444
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ly... OMIM:233690
Immunodeficiency 14A, Autosomal Dominant
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent e... OMIM:615513
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Recur... ORPHA:2688
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Melioidosis
Unusual skin infection, Prostatitis, Sepsis, Osteoarthritis, Brain abscess, Acute infectious pneu... ORPHA:31202
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infecti... ORPHA:486
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Tachypnea, Pneumonia, Respiratory tract infection, Hypoxemia, Respirator... ORPHA:70587
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Immunodeficiency 43
Bronchiectasis, Recurrent respiratory infections, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Caspase 8 Deficiency
Asthma, Eczema, Pneumonia, Recurrent herpes, Recurrent sinopulmonary infections OMIM:607271
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections ORPHA:169079
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Sepsis, Severe infection, Acute infec... ORPHA:36238
Omenn Syndrome
Recurrent fungal infections, Recurrent bacterial infections, Pneumonia, Erythroderma, Recurrent v... OMIM:603554
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Periodontitis, Pneumonia, Recurrent otitis media OMIM:266265
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... ORPHA:411703
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chronic otitis media, Cou... ORPHA:33110
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Recurrent bacterial infections, Recurrent respiratory infections OMIM:613496
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pancreatitis, Pulmonary edema, Sepsis, Pneumonia, Hypoxemia, Dyspnea, R... ORPHA:70578
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Osteomyelitis, Recurrent bacterial infections, Recurrent staphylococcal infections... OMIM:116920
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Brain abscess, Cough, Meningitis, ... ORPHA:3392
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Otitis media, Recurrent bacterial infections, Recurrent opportunistic infections, Recu... OMIM:613179
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, Perianal abscess... OMIM:618108
Sarcoidosis, Susceptibility To, 2
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... OMIM:612387
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Emph... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Airway obstruction, Recurrent otitis media, Anomalous pulmona... ORPHA:244
Immunodeficiency 36
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... OMIM:616005
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Skin rash, Recurrent bacterial infections, Cough, Arthritis, Meningitis, Uvei... ORPHA:36412
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Elevated circulating creatinine concentration, Recurrent respiratory infections, ... OMIM:619468
Whim Syndrome
Sinusitis, Otitis media, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory trac... ORPHA:51636
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Ly... OMIM:306400
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Immunodeficiency 58
Cutaneous abscess, Asthma, Onychomycosis, Colitis, Chronic pulmonary obstruction, Chronic bronchi... OMIM:618131
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Immunodeficiency, Common Variable, 8, With Autoimmunity
Asthma, Recurrent otitis media, Colitis, Conjunctivitis, Thyroiditis, Sepsis, Atrophic gastritis,... OMIM:614700
Fusariosis
Keratitis, Onychomycosis, Sinusitis, Unusual CNS infection, Osteomyelitis, Maculopapular exanthem... ORPHA:228119
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent infections, Recurrent aphthous stomatitis, Recurrent pneumoni... OMIM:150550
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Conjunctivitis, Nonp... ORPHA:454836
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Recurrent skin infections, Sepsis OMIM:612840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... OMIM:614878
Pgm3-Cdg
Asthma, Recurrent fungal infections, Osteomyelitis, Recurrent skin infections, Sepsis, Recurrent ... ORPHA:443811
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections OMIM:618523
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Immunodeficiency 92
Osteomyelitis, Recurrent oral herpes, Sclerosing cholangitis, Pneumonia, Esophagitis, Cholangitis... OMIM:619652
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Thyroiditis, Recurrent fungal infections, Chronic oral candidiasis, Psoriasiform dermatitis, Recu... OMIM:606367
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... OMIM:244400
Immunodeficiency 27A
Abnormal bronchus physiology, Increased inflammatory response, Hypoalbuminemia, Pneumonia, Salmon... OMIM:209950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Chronic bronchitis, Sepsis, Lymphadenitis, Severe varicella zoster... OMIM:618986
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, O... ORPHA:36234
Acute Interstitial Pneumonia
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Hypoxemia,... ORPHA:79126
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Timothy Syndrome
Bronchitis, Recurrent infections, Pneumonia OMIM:601005
Immunodeficiency 23
Asthma, Eczema, Membranoproliferative glomerulonephritis, Severe varicella zoster infection, Recu... OMIM:615816
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Immunodeficiency 102
Recurrent skin infections, Sepsis, Recurrent upper respiratory tract infections, Severe varicella... OMIM:301082
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Pneumonia, BCGosis, Osteomyelitis, Recurrent tonsilli... ORPHA:2968
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Sclerosing cholangitis, Chronic... OMIM:308230
Nocardiosis
Respiratory distress, Keratitis, Unusual CNS infection, Sepsis, Lymphadenitis, Pneumonia, Pericar... ORPHA:31204
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Chronic infection, Dyspnea, Bronchogenic cyst, Pulm... ORPHA:2357
Yellow Nail Syndrome
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... ORPHA:662
Agammaglobulinemia, X-Linked
Prostatitis, Bronchiolitis obliterans, Enteroviral dermatomyositis syndrome, Pyoderma, Enterovira... OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, Sinusitis, Recurrent fungal infections, Inflammatory abnormality of the skin, Skin rash, ... OMIM:102700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Hypoxemia, Multiple pulmonary ... ORPHA:79128
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Recurrent bacterial infections, Neutrophilic infiltration of the skin... OMIM:618048
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Bronchiectasis, Rhinorrhea, Wheezing OMIM:617577
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatiti... OMIM:619752
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections, Respiratory failure requiring assis... ORPHA:204
Netherton Syndrome
Asthma, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emphysema,... ORPHA:634
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Sepsis, Recurrent upper respiratory tract infections, Eczema, Atrophic gastritis... OMIM:616100
Postinfectious Vasculitis
Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... ORPHA:48435
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Recurrent fungal infections, Skin rash, R... ORPHA:331206
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Decreased DLCO, Cough, Usual inter... OMIM:178500
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic... ORPHA:39812
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Pneumonia, Eczematoid... ORPHA:37042
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Hyperlysinemia, Pancreatitis, Central sleep apnea, Aspiration pneumonia, Abnormal circulating car... ORPHA:431361
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage OMIM:603585
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Ulcerative colitis, Bronchiectasis, Recurrent sinopulmonary infections,... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Menin... OMIM:600802
Common Variable Immunodeficiency
Otitis media, Chronic otitis media, Recurrent bronchitis, Restrictive ventilatory defect, Pneumon... ORPHA:1572
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Riddle Syndrome
Otitis media, Recurrent viral infections, Abnormal pulmonary interstitial morphology, Arthritis, ... ORPHA:420741
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Chronic bronchitis, Pneumonia OMIM:242860
Bronchial Neuroendocrine Tumor
Asthma, Increased circulating cortisol level, Nonproductive cough, Bronchospasm, Abnormal pulmona... ORPHA:97287
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... ORPHA:221139
Good Syndrome
Sinusitis, Recurrent skin infections, Recurrent urinary tract infections, Cough, Bronchiectasis, ... ORPHA:169105
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Cough, Hepatitis, Tubulointerstitial n... ORPHA:139402
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Cough, Recurrent aspiration pneumonia, Recurrent... ORPHA:79124
Microsporidiosis
Keratitis, Pancreatitis, Sepsis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis, Os... ORPHA:2552
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Recurrent infections, Pneumonia ORPHA:309288
Q Fever
Respiratory distress, Unusual infection, Osteomyelitis, Maculopapular exanthema, Endocarditis, My... ORPHA:781
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Hermansky-Pudlak Syndrome 2
Periodontitis, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Rec... OMIM:608233
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Recurrent bacterial infections, Pneumonia, Exertional dyspnea,... ORPHA:99104
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Otitis media, Respiratory insufficiency, Recurrent urinary tract infections, Sepsis, Recurrent ba... OMIM:612541
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypocalcemia, Episodic tachypnea, Inflammatory abnormality of the skin, Hyp... ORPHA:26793
Omenn Syndrome
Erythroderma, Thyroiditis, Sepsis, Pneumonia ORPHA:39041
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Chronic pulmonary obstruction, Skin rash, Recurrent tonsill... ORPHA:125
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... ORPHA:98897
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Mirage Syndrome
Aspiration pneumonia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections OMIM:617053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Sepsis, Recurrent upper respiratory tract infections, BCGitis, Pneumonia OMIM:602450
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Interstitial pneumonitis, Eczema, Recurrent upper respirat... OMIM:615952
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent infections, Pneumonia OMIM:226300
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Chromomycosis
Keratitis, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Listeriosis
Respiratory distress, Unusual skin infection, Unusual CNS infection, Osteomyelitis, Conjunctiviti... ORPHA:533
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Recurrent respiratory inf... ORPHA:98905
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, ... ORPHA:293978
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Inflammation of th... OMIM:600903
Cryptococcosis
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Sepsis, Peri... ORPHA:1546
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Recurrent bacterial infections, Orthopnea, Breathing dysregulation, Pneumonia... ORPHA:99103
Vici Syndrome
Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutaneous candidiasis, R... OMIM:242840
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea ORPHA:79264
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Interlobular septal thickening, Increased circulating surfactant... ORPHA:60025
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Skin rash, Recurrent bacterial infections, Re... ORPHA:167
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Mercury Poisoning
Respiratory distress, Hypokalemia, Interstitial pneumonitis, Dyspnea, Respiratory failure ORPHA:330021
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Coccidioidomycosis
Respiratory distress, Unusual CNS infection, Osteomyelitis, Pancreatitis, Folliculitis, Panniculi... ORPHA:228123
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Recurrent bacterial infections, Eczema, Lymphadenitis, Inflammation of the large intestine, Eryth... OMIM:615895
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Unusu... ORPHA:73263
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu... ORPHA:1304
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Shigellosis
Acute colitis, Peritonitis, Myocarditis, Arthritis, Abnormal blood ion concentration, Ulcerative ... ORPHA:810
Shwachman-Diamond Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent bacterial infections, Sepsis, Eczema, Pneumonia, R... ORPHA:811
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Recurrent infections, Pneumonia ORPHA:1855
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Restrictive ventilatory... OMIM:607944
Sickle Cell Anemia
Hypoxemia, Recurrent bacterial infections OMIM:603903
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Spont... OMIM:214500
Cholera
Hypokalemia, Hypocalcemia, Aspiration pneumonia, Tachypnea, Abnormal blood ion concentration, Hyp... ORPHA:173
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Pleural empyema, Severe infection, Brain abscess, Myocarditis, Sever... ORPHA:544482
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Colitis, Gastritis, Osteomyelitis, Skin rash, Recurrent skin infections, Arthrit... OMIM:619381
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Tenorio Syndrome
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia OMIM:616260
Immunodeficiency 87 And Autoimmunity
Recurrent fungal infections, Necrotizing enterocolitis, Sepsis, Recurrent bacterial infections, S... OMIM:619573
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Nephritis, Abnormal circulating lipid concentratio... ORPHA:2298
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurrent infections ORPHA:79243
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Recurrent bronchopulmonary ... OMIM:219700
Bickerstaff Brainstem Encephalitis
Recurrent gastroenteritis, Severe infection, Hypercapnia, Respiratory failure requiring assisted ... ORPHA:79138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia, Pneumonia ORPHA:90790
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Pneumonia, Skin rash ORPHA:247691
Glycogen Storage Disease Ib
Recurrent bacterial infections, Pancreatitis, Gout, Inflammation of the large intestine OMIM:232220
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pulmonary edema, Epistaxis, Acute tubulointerstitial nephritis, Cough, Tubu... ORPHA:340
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Periodontitis, Pancreatitis, Enterocolitis, Recurrent bacterial in... ORPHA:79259
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Aspiration pneumonia, Cough, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respi... ORPHA:1018
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Gm1 Gangliosidosis
Aspiration pneumonia, Infectious encephalitis, Recurrent respiratory infections ORPHA:354
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Igg4-Related Kidney Disease
Prostatitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Inflammatory ab... ORPHA:449395
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pyoderma, Recurrent skin infections, Sepsis, Recurrent urinary tract infect... ORPHA:79404
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Skin rash, Atopic dermatitis, Chilblains, Arthritis... OMIM:615846
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Aspiration pneumonia, Elevated circulating creatine kinase concentr... ORPHA:94093
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia ORPHA:2135
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pustule, Infectious encephalitis, Pneumonia, Respiratory tract... ORPHA:68
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Chronic lun... OMIM:616368
Alpha-Mannosidosis, Infantile Form
Recurrent gastroenteritis, Otitis media, Recurrent urinary tract infections, Recurrent infections... ORPHA:309282
Mucopolysaccharidosis, Type Vi
Sleep apnea, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Pneumo... OMIM:253200
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Blepharitis, Cheilitis, Recurrent bacterial infections, Eczema, Uveitis, Recurrent inf... ORPHA:2273
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Otitis media, Chronic otitis media, Upper airway obs... ORPHA:581
Plague
Respiratory distress, Enterocolitis, Skin rash, Sepsis, Lymphadenitis, Endocarditis, Acute infect... ORPHA:707
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Weakness of muscles of respiration, Aspiration pneumonia, Hyper... ORPHA:2020
Lysinuric Protein Intolerance
Pancreatitis, Recurrent bacterial infections, Respiratory insufficiency, Intraalveolar phospholip... ORPHA:470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Keratitis, Inflammatory abnormality of the skin, Skin rash, Sepsis, Chronic... ORPHA:95455
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Recurrent respiratory inf... ORPHA:397715
Marshall-Smith Syndrome
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Re... OMIM:602535
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Recurrent otitis media, Hypocalc... OMIM:619991
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Recurrent urinary tract infections ORPHA:99027
Degcags Syndrome
Asthma, Rhinitis, Tracheomalacia, Recurrent urinary tract infections, Chronic lung disease, Recur... OMIM:619488
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections, Recurrent infections ORPHA:1465
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Arboleda-Tham Syndrome
Respiratory distress, Recurrent urinary tract infections, Chronic otitis media, Recurrent aspirat... OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Asthma, Otitis media, Recurrent urinary tract infections, Pneumonia, Recurrent respiratory infect... ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis, Recurrent Staphylococcus aureus infecti... ORPHA:642
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Elevated alpha-fetoprotein, Recurrent aspirati... ORPHA:280633
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Asthma, Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Pulmonary arteri... ORPHA:444077
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Recurrent respiratory infections, Pneumonia OMIM:264090
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Stridor, Tracheomalacia ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Asthma, Otitis media, Recurrent urinary tract infections, Aspiration, Pneumonia, Recurrent respir... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Asthma, Otitis media, Recurrent urinary tract infections, Aspiration, Pneumonia, Recurrent respir... ORPHA:353277
Niemann-Pick Disease Type C
Aspiration pneumonia, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Decreased serum iron, Breathing dysregulation, ... ORPHA:438213
Semilobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93924
Fontaine Progeroid Syndrome
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... OMIM:612289
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Recurrent infections, Recurrent otitis media OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Aspiration pneumonia, Pulmonary arterial hypertension OMIM:216340
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Hypoalbuminemia, Reduced thyroxin-binding globulin, P... 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 Sftpa1

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 Sftpa1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Retinal degeneration mutation in Sftpa1tm1Kor/J and Sftpd -/- targeted mice. PloS one (July 2018) Sftpa1tm1a(KOMP)Wtsi Sftpa1tm1(KOMP)Vlcg PMC6029784

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MGI Allele Allele Type Produced
Sftpa1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Sftpa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sftpa1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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