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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
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... 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 otitis media, Recurrent pneumonia OMIM:243110
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... 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 bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... OMIM:613860
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
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
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 104
Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Otitis ... OMIM:608971
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Cystic Disease Of Lung
Multiple pulmonary cysts, Spontaneous neonatal pneumothorax, Recurrent infections OMIM:219600
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 48
Recurrent respiratory infections, Eczematoid dermatitis, Pneumonia, Recurrent candida infections OMIM:269840
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... OMIM:613493
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Severe cytomegalovirus ... OMIM:617638
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... OMIM:601457
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... OMIM:614379
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... OMIM:300310
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... OMIM:612692
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, R... OMIM:607594
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... OMIM:613501
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... ORPHA:183675
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Severe cytom... ORPHA:397596
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... ORPHA:264675
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent ... ORPHA:169160
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti... ORPHA:572
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Cough, Severe recurr... ORPHA:276
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organi... OMIM:615518
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Recurrent infections, Persistent EBV... OMIM:617514
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... OMIM:147060
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... OMIM:300400
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Recurrent otitis media, Recurrent ... OMIM:619220
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Recurrent e... OMIM:615513
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis ... OMIM:620321
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Pneumonia, Eczema, Asthma OMIM:607271
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... ORPHA:178320
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Respiratory t... ORPHA:31202
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, BCGitis, Recurrent infect... OMIM:226990
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... ORPHA:2688
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Sepsis, S... ORPHA:36238
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis OMIM:613496
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... ORPHA:70578
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... ORPHA:98813
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunct... ORPHA:3392
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral infections, Recurrent o... OMIM:613179
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Hypertriglyceridemia, Bronchiectasis, Recurrent sin... OMIM:620282
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defect, Pleural ef... ORPHA:36412
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... OMIM:616005
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent infections, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Helicobacter pylori infe... OMIM:618131
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cou... ORPHA:228119
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... ORPHA:454836
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate... ORPHA:79126
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media OMIM:618523
Pgm3-Cdg
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema... ORPHA:443811
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Dyspnea, Atelectasis, C... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se... OMIM:606367
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Sepsis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Recurrent bacterial infe... OMIM:308230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Severe varicella zoster infection, Chronic pulmo... OMIM:618986
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Salmonella osteomyeliti... OMIM:209950
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Sc... OMIM:619652
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Immunodeficiency 102
Recurrent skin infections, Severe varicella zoster infection, Recurrent upper respiratory tract i... OMIM:301082
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... OMIM:616433
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... OMIM:300755
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral... OMIM:618048
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent viral infections... OMIM:102700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, Decreased circulating beta-2-micr... OMIM:241600
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Recurrent bacterial infections, Recurrent f... ORPHA:331206
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage OMIM:603585
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... OMIM:618394
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Otit... ORPHA:1572
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... ORPHA:420741
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia OMIM:618253
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Sinusitis, Bronchiectasis, Chronic bronchitis OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... ORPHA:431361
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Nephritis, Infectious enceph... ORPHA:2552
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... ORPHA:79124
Bloom Syndrome
Recurrent herpes, Recurrent urinary tract infections, Skin rash, Pneumonia, Bronchitis, Respirato... ORPHA:125
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Elevat... ORPHA:26793
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Omenn Syndrome
Sepsis, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Pulmonary fibrosis, Recurrent... OMIM:608233
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis, Aspiration pneumonia OMIM:617053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Otitis media OMIM:602450
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:620233
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual in... ORPHA:781
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Listeriosis
Respiratory distress, Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumon... ORPHA:533
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Immunodeficiency 31C
Recurrent respiratory infections, Osteomyelitis, Eczema, Cough, Coccidioidomycosis, Bronchiectasi... OMIM:614162
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Skin rash, Epistaxis, Recu... ORPHA:167
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Hypokalemia ORPHA:330021
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Recurrent bacterial infections, Inflammation of the large intestine, Eryth... OMIM:615895
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis,... ORPHA:228123
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Brucellosis
Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Infectiou... ORPHA:1304
Shigellosis
Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Abnormal blood ion concentration, Uveitis, Ulc... ORPHA:810
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Sepsis, Recur... ORPHA:811
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... OMIM:619381
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... OMIM:607944
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Persistent EBV... OMIM:619573
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni... OMIM:214500
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Severe infection, Se... ORPHA:544482
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Sickle Cell Disease
Hypoxemia, Recurrent bacterial infections OMIM:603903
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Pneumonia ORPHA:90790
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Abnormal circulating fatty-acid c... ORPHA:2298
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Skin rash, Pneumonia ORPHA:247691
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... OMIM:242840
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurrent bacterial infections, ... ORPHA:79259
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Elevated circulating cre... ORPHA:340
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Increased circulating ferritin concentratio... OMIM:615846
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyperkalemi... ORPHA:94093
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency ORPHA:2135
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pneumonia, Recurrent infections, Recurrent gastroenteritis, O... ORPHA:309282
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... ORPHA:68
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein conce... ORPHA:449395
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Lysinuric Protein Intolerance
Glomerulonephritis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Tubuloint... ORPHA:470
Chops Syndrome
Tracheomalacia, Chronic lung disease, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Meningitis, Entero... ORPHA:707
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Pleu... ORPHA:171
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Recurrent tonsillitis, Upper air... ORPHA:581
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Liver Disease, Severe Congenital
Hyponatremia, Chronic gastritis, Eczema, Pneumonia, Elevated circulating alpha-fetoprotein concen... OMIM:619991
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Degcags Syndrome
Recurrent urinary tract infections, Pneumonia, Asthma, Recurrent infections, Rhinitis, Tracheomal... OMIM:619488
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... ORPHA:353277
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia OMIM:264090
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Aspiration pneumonia ORPHA:438213
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiratio... 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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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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