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Gene: Cox4i2 MGI:2135755

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cytochrome c oxidase subunit 4I2

Synonyms:

Cox IV-2, Cox4b

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 Cox4i2 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.

Human diseases associated with Cox4i2 (1 diseases)
Human diseases predicted to be associated with Cox4i2 (412 diseases)

The table below shows human diseases associated to Cox4i2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis		Allergic rhinitis, Skin rash, Failure to thrive	OMIM:612714

The table below shows human diseases predicted to be associated to Cox4i2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Interstitial Lung Disease 2	Usual interstitial pneumonia, Pulmonary fibrosis, Elevated bronchoalveolar lavage fluid neutrophi...	OMIM:178500
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage	OMIM:178550
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Pulmo...	ORPHA:133
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Pulmonary fibrosis	OMIM:620400
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp...	OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Diabetes...	ORPHA:449280
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections	OMIM:618806
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT	ORPHA:60026
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss, Bronchitis	ORPHA:930
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Felty Syndrome	Recurrent pneumonia, Episcleritis, Synovitis, Sinusitis, Rhinitis, Weight loss, Arthritis, Recurr...	ORPHA:47612
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma...	OMIM:616414
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hypers...	ORPHA:1163
Immunodeficiency 60 And Autoimmunity	Ulcerative colitis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibro...	OMIM:618394
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen...	ORPHA:79127
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Glycosuria, Lung adenocarcinoma	OMIM:618913
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:614742
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Pulmonary fibrosis, Erysipelas	OMIM:615704
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit...	OMIM:618986
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Nodular patt...	ORPHA:99931
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr...	OMIM:615518
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Failure to thrive in infancy, Oligoarthritis, Erythroderma, Recurrent resp...	OMIM:619510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis	OMIM:614743
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Subpleural interstitial thickenin...	ORPHA:79128
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormal pleura morphology, Pulmonary fibrosis	ORPHA:210136
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Type I diabetes mellitus, Pulmonary fibrosis	OMIM:620365
Antisynthetase Syndrome	Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulmonary inter...	ORPHA:81
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Failure to t...	OMIM:263000
Combined Immunodeficiency, X-Linked	Pneumonia, Otitis media, Recurrent bronchitis, Sinusitis	OMIM:312863
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:607616
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis	OMIM:617638
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Pleural effusion, Crohn's disease, Per...	OMIM:618935
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res...	ORPHA:60033
Microlissencephaly	Pneumonia	ORPHA:1083
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Pulmonary fibrosis, Overweight	ORPHA:457240
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros...	OMIM:610978
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Braddock Syndrome	Pulmonary fibrosis, Failure to thrive	ORPHA:52047
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Recurrent upper respiratory tract infections, Colitis...	OMIM:613101
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Diffuse Alveolar Hemorrhage	Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Weight loss	ORPHA:90060
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Failure to thrive, Malar rash, Skin rash, Pustule, Myositis, Recurrent respiratory...	OMIM:615934
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Mixed Connective Tissue Disease	Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pulm...	ORPHA:809
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,...	ORPHA:420741
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Usual interstitial pneumonia, Pulmonary fibrosis, Cholecystitis	OMIM:620367
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Polymyositis	Weight loss, Arthritis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pericarditis	ORPHA:732
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Failure to thrive, Pulmonary hem...	OMIM:619644
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis	OMIM:612852
Immunodeficiency 48	Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis, Failure to thrive	OMIM:269840
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis	OMIM:617092
Neonatal Alloimmune Neutropenia	Pneumonia, Maternal diabetes	ORPHA:464370
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis	OMIM:614073
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Bronchiectasis	OMIM:619126
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,...	OMIM:616576
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Bronchiolitis obliterans, Small for gestational age, Eczematoid der...	OMIM:617241
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pulmonary fibrosis	OMIM:619767
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis...	OMIM:607594
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnorma...	ORPHA:229717
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou...	ORPHA:29207
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, In...	OMIM:615952
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Failure to thrive in infancy...	ORPHA:79124
Activated Pi3K-Delta Syndrome	Pneumonia, Failure to thrive, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasi...	ORPHA:397596
Acute Lung Injury	Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea...	ORPHA:178320
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:615139
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi...	OMIM:615482
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Bone Marrow Failure Syndrome 5	Pulmonary fibrosis	OMIM:618165
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, Recurrent respiratory in...	ORPHA:217390
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis	OMIM:614017
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal glucose homeostasis, Aspiration pneumonia	ORPHA:90117
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Chronic oral candidiasis	OMIM:300400
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Caspase 8 Deficiency	Pneumonia, Recurrent sinopulmonary infections, Eczematoid dermatitis, Failure to thrive	OMIM:607271
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis	OMIM:266265
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Primary Ciliary Dyskinesia	Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract infection, Chron...	ORPHA:244
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ...	ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Intraalveolar phospholipid accumu...	OMIM:615486
Typhoid	Abnormal pulmonary interstitial morphology, Skin rash, Infectious encephalitis	ORPHA:99745
Diffuse Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Arthritis	ORPHA:220393
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Failure to thrive, Abnormal pulmonary interstitial morphology, Recurrent res...	ORPHA:209905
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pleural effusion, Iridocyclitis, Weight loss, Art...	OMIM:181000
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612650
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis	OMIM:203300
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Pleural effusion, Weight loss, Hypersensitivity pneumonitis	ORPHA:2902
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr...	ORPHA:900
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai...	OMIM:265120
Severe Acute Respiratory Syndrome	Diabetes mellitus, Acute infectious pneumonia	ORPHA:140896
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Weight loss, Abnormal pulmonary interstitial morpholo...	ORPHA:35687
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur...	OMIM:620321
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immune-Mediated Necrotizing Myopathy	Myositis, Abnormal pulmonary interstitial morphology, Skin rash, Myocarditis	ORPHA:206569
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Dyskeratosis Congenita, Autosomal Dominant 2	Pulmonary fibrosis, Failure to thrive	OMIM:613989
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis	OMIM:615513
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Periodontitis, Recurrent otitis media, Pulmonary fibrosis, Chronic oral cand...	OMIM:608233
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thrive, Recurrent otitis medi...	OMIM:620233
Rajab Interstitial Lung Disease With Brain Calcifications 2	Abnormal pulmonary interstitial morphology	OMIM:619013
Hereditary Pulmonary Alveolar Proteinosis	Failure to thrive in infancy, Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Diabetes mellitus, Pulmona...	ORPHA:36238
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Type I d...	OMIM:614700
Fusariosis	Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit...	ORPHA:228119
Allergic Bronchopulmonary Aspergillosis	Emphysema, Weight loss, Bronchiectasis	ORPHA:1164
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Type I diabetes mellitus, Eczematoid dermatitis, Failure to thrive in infancy, Psoriasiform derma...	OMIM:606367
Immunodeficiency 32B	Pneumonia, Failure to thrive, Sinusitis, Recurrent respiratory infections, Bronchiectasis	OMIM:226990
Systemic Sclerosis	Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Arthritis, Myocarditis, Abnormal pu...	ORPHA:90291
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Immunodeficiency 56	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Chronic hepa...	OMIM:615207
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:608184
Juvenile Dermatomyositis	Skin rash, Myositis, Weight loss, Arthritis, Pulmonary fibrosis, Pericarditis	ORPHA:93672
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Failure to thrive, Skin rash, Gastritis, Perianal abscess, R...	OMIM:618108
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Melioidosis	Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Respiratory tract infecti...	ORPHA:31202
Ciliary Dyskinesia, Primary, 38	Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis	OMIM:618063
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion	ORPHA:330001
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Dyskeratosis Congenita, Autosomal Recessive 1	Pulmonary fibrosis	OMIM:224230
Dyskeratosis Congenita, Autosomal Dominant 1	Pulmonary fibrosis, Interstitial pneumonitis	OMIM:127550
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resista...	ORPHA:2298
Dyskeratosis Congenita, Autosomal Dominant 3	Abnormal pulmonary interstitial morphology, Pulmonary fibrosis	OMIM:613990
Tularemia	Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema nodosum, Inflam...	ORPHA:3392
Meconium Aspiration Syndrome	Pneumothorax, Maternal diabetes, Atelectasis, Aspiration pneumonia	ORPHA:70588
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i...	OMIM:613807
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio...	ORPHA:723
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, O...	ORPHA:169160
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer...	OMIM:614878
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Q Fever	Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectious encephalitis, We...	ORPHA:781
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss	ORPHA:97287
Overlap Myositis	Abnormal pulmonary interstitial morphology, Rheumatoid arthritis, Diabetes mellitus, Arthritis	ORPHA:206572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis	OMIM:614069
Autosomal Agammaglobulinemia	Chronic otitis media, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Arthritis, Sinusiti...	ORPHA:33110
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Failure to thrive, Chronic bronchitis, Sinusitis, Bronchiectasis	OMIM:242860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Immunodeficiency 27A	Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Weight loss	OMIM:209950
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Immunodeficiency 62	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Failure to thrive, Pleural effusion,...	ORPHA:3260
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615444
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Niemann-Pick Disease, Type C2	Pulmonary fibrosis	OMIM:607625
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Emphysema, Pyoderma, Recurrent bro...	OMIM:242700
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si...	OMIM:300755
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pulmonary fibrosis, Failure to thrive, Atelectasis	OMIM:618278
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Hermansky-Pudlak Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:79430
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Pulmonary fibrosis	OMIM:612199
Immunodeficiency 97 With Autoinflammation	Eczematoid dermatitis, Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, Ent...	OMIM:619802
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Panniculitis, Gastritis, Glomerulonephritis, Arthritis,...	ORPHA:3261
Sarcoidosis	Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Pleural effusion, Maculopapular ex...	ORPHA:797
Timothy Syndrome	Pneumonia, Bronchitis, Hypoglycemia	OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Bronchiectasis, Hypoglycemia, Aspiration pneumonia	OMIM:618253
Slc35A1-Cdg	Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Ker...	ORPHA:227990
Dermatomyositis	Heliotrope rash, Skin rash, Lung adenocarcinoma, Myositis, Weight loss, Arthritis, Myocarditis, A...	ORPHA:221
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta...	OMIM:619752
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Pleural effusion, Bronchiectasis, Weight loss	ORPHA:411703
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss, Glycosuria, Hypoglycemia	ORPHA:3337
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Pulmonary fibrosis	OMIM:614075
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617050
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Type I diabetes mellitus, Rheumatoid arthritis, Hepatitis, Hashimoto thyroidi...	ORPHA:227982
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp...	OMIM:616433
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Type I diabetes mellitus, Inflammatory abnormality of the skin, Eczematoid dermatitis,...	ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Chroni...	ORPHA:911
Ciliary Dyskinesia, Primary, 2	Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis	OMIM:606763
Common Variable Immunodeficiency	Pneumonia, Chronic otitis media, Emphysema, Failure to thrive in infancy, Recurrent bronchitis, O...	ORPHA:1572
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin...	ORPHA:486
Yellow Nail Syndrome	Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neoplasm of the...	ORPHA:662
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Brucellosis	Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Endocardit...	ORPHA:1304
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Chronic oral candidiasis	OMIM:150550
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology	OMIM:230800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he...	OMIM:307200
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis	OMIM:620296
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Fasciitis, Acute hepatitis, C...	ORPHA:39812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi...	OMIM:616100
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Al Amyloidosis	Abnormal pulmonary interstitial morphology, Weight loss, Pulmonary interstitial high-resolution c...	ORPHA:85443
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Weight loss, Er...	ORPHA:139402
Microsporidiosis	Lymphadenitis, Keratoconjunctivitis, Prostatitis, Weight loss, Cachexia, Endocarditis, Osteomyeli...	ORPHA:2552
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Cachexia, Pulmonary fibrosis, Bacterial endocarditis	ORPHA:2072
Primary Sjögren Syndrome	Usual interstitial pneumonia, Arteritis, Bronchitis, Parotitis, Chronic active hepatitis, Lymphoc...	ORPHA:289390
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis	OMIM:617577
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Skin rash, Infectiou...	ORPHA:36234
Avian Influenza	Pneumonia, Myelitis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, Conjunct...	ORPHA:454836
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Omenn Syndrome	Pneumonia, Erythroderma, Failure to thrive, Thyroiditis	ORPHA:39041
Gaucher Disease	Hepatitis, Osteomyelitis, Osteoarthritis, Abnormal pulmonary interstitial morphology, Pulmonary f...	ORPHA:355
Immunodeficiency 92	Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis	OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent cutaneous f...	ORPHA:276
Immunodeficiency 12	Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Recurrent lower respiratory trac...	OMIM:615468
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Alpha-1-Antitrypsin Deficiency	Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis	ORPHA:60
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio...	ORPHA:31204
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Eczematoid dermatitis, Failure to thrive, Atypical or prolonged hepatitis, Sinusitis, ...	ORPHA:83471
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Good Syndrome	Sinusitis, Recurrent respiratory infections, Recurrent skin infections, Diabetes mellitus, Bronch...	ORPHA:169105
Dyskeratosis Congenita, X-Linked	Conjunctivitis, Pulmonary fibrosis, Blepharitis	OMIM:305000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent otitis medi...	OMIM:600802
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection...	OMIM:619632
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Conjunctivit...	OMIM:601495
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Otitis media, Sinusit...	OMIM:613179
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis	ORPHA:231154
Bloom Syndrome	Pneumonia, Insulin resistance, Bronchitis, Respiratory tract infection, Otitis media, Skin rash, ...	ORPHA:125
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Failure to thrive, Aspiration pneumonia	ORPHA:431361
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Obesity, Hypoketotic hypoglycemia, Overweight, S...	ORPHA:26793
Gaucher Disease Type 1	Abnormal pulmonary interstitial morphology, Osteoarthritis	ORPHA:77259
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation	ORPHA:747
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Shigellosis	Pneumonia, Hypoglycemia, Ulcerative colitis, Failure to thrive in infancy, Peritonitis, Arthritis...	ORPHA:810
Adult-Onset Still Disease	Hepatitis, Interstitial pneumonitis, Skin rash, Weight loss, Arthritis, Arthralgia/arthritis, Myo...	ORPHA:829
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Kawasaki Disease	Hepatitis, Conjunctivitis, Skin rash, Cholecystitis, Arthritis, Recurrent pharyngitis, Myocarditi...	ORPHA:2331
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Small for gestational age	ORPHA:79243
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Failure to thrive	OMIM:602450
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys...	OMIM:158310
Congenital Syphilis	Pneumonia, Keratitis, Hypoglycemia, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular...	ORPHA:499009
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent h...	ORPHA:293978
Rajab Interstitial Lung Disease With Brain Calcifications 1	Failure to thrive, Hypoglycemia, Emphysema, Slender build, Abnormal pulmonary interstitial morpho...	OMIM:613658
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections	ORPHA:98905
Zygomycosis	Nephritis, Hepatitis, Atelectasis, Fasciitis, Pleural effusion, Infectious encephalitis, Pustule,...	ORPHA:73263
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Fa...	ORPHA:95430
Omenn Syndrome	Pneumonia, Erythroderma, Failure to thrive	OMIM:603554
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	ORPHA:77261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Chronic otitis media	ORPHA:169090
Alpha-Mannosidosis, Adult Form	Pneumonia	ORPHA:309288
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hypoglycemia	ORPHA:90790
Kikuchi-Fujimoto Disease	Malar rash, Pleural effusion, Skin rash, Pustule, Weight loss, Myocarditis, Abnormal pulmonary in...	ORPHA:50918
Mohr-Tranebjaerg Syndrome	Aspiration pneumonia	ORPHA:52368
Cryptococcosis	Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit...	ORPHA:1546
Farber Disease	Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Nodular pattern on ...	ORPHA:333
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Infectious encephalitis, Weight loss, Recurrent respirat...	ORPHA:354
Mirage Syndrome	Decreased body weight, Hypoglycemia, Aspiration pneumonia	OMIM:617053
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid...	OMIM:607944
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Respiratory tract infection, Pancreatitis, Myocarditis, Septic arthritis, Pleuritis, A...	ORPHA:544482
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Failure to thrive, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Weight loss,...	ORPHA:1018
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Spondyloenchondrodysplasia	Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Pleural effusion, Pneumothorax, Keratoconjunctivitis sic...	ORPHA:99921
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Bronchitis, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin rash...	OMIM:619381
Coccidioidomycosis	Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Skin rash,...	ORPHA:228123
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl...	ORPHA:48435
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Leukocyte Adhesion Deficiency	Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Respiratory tract infection, ...	ORPHA:2968
Hennekam-Beemer Syndrome	Pneumonia, Failure to thrive	ORPHA:2135
Listeriosis	Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust...	ORPHA:533
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Skin rash	ORPHA:247691
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Fanconi Anemia, Complementation Group F	Pneumonia, Failure to thrive	OMIM:603467
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Weight loss, ...	OMIM:615846
Shwachman-Diamond Syndrome	Pneumonia, Eczematoid dermatitis, Failure to thrive, Osteomyelitis, Skin rash, Sinusitis, Diabete...	ORPHA:811
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Int...	ORPHA:449395
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Cholera	Hypoglycemia, Aspiration pneumonia	ORPHA:173
Chops Syndrome	Obesity, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Geleophysic Dysplasia 3	Pneumonia	OMIM:617809
Gaucher Disease, Type Ii	Recurrent aspiration pneumonia, Bronchiolitis, Failure to thrive	OMIM:230900
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Sinusitis	ORPHA:68
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal pulmonary interstitial morphology, Interstitial pneumonitis	ORPHA:77293
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Decreased body weight, Pulmonary edema, Glomerulonephritis, Tubuloin...	ORPHA:340
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo...	OMIM:233450
Cystic Fibrosis	Recurrent pneumonia, Failure to thrive, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmona...	OMIM:219700
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia	ORPHA:70
Gm1 Gangliosidosis Type 1	Aspiration pneumonia	ORPHA:79255
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Otitis media, Respiratory tract infection, Recurrent sinopulmonary infectio...	ORPHA:581
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections	OMIM:253200
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ...	OMIM:130050
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Failure to thrive, Aspiration pneumonia, Decreased ...	OMIM:602535
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Seborrheic dermatitis, Truncal obesity, Aspiration pneumonia	OMIM:301072
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Failure to thrive, Recurrent respiratory infections	ORPHA:397715
Tay-Sachs Disease	Aspiration pneumonia	ORPHA:845
Alpha-Mannosidosis, Infantile Form	Pneumonia, Otitis media	ORPHA:309282
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent aspiration pneumonia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis	ORPHA:221139
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Failure to thrive, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Recurrent sk...	ORPHA:79404
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Miller-Dieker Lissencephaly Syndrome	Recurrent aspiration pneumonia, Failure to thrive	OMIM:247200
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun...	ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Neuroleptic Malignant Syndrome	Aspiration pneumonia	ORPHA:94093
Degcags Syndrome	Pneumonia, Rhinitis, Small for gestational age, Failure to thrive	OMIM:619488
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia, Obesity, Aspiration pneumonia	ORPHA:444077
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca...	ORPHA:95455
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections	ORPHA:353281
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Liver Disease, Severe Congenital	Pneumonia, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Chronic gastritis, P...	OMIM:619991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis	ORPHA:280633
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Recurrent respiratory infections, Small for gestational age, Failure to thrive	OMIM:264090
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Arboleda-Tham Syndrome	Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn...	OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Failure to thrive, Obesity, Otitis media, Recurrent respiratory infections	ORPHA:353277
Fontaine Progeroid Syndrome	Failure to thrive, Pneumothorax, Recurrent aspiration pneumonia, Small for gestational age, Pulmo...	OMIM:612289
Niemann-Pick Disease Type C	Abnormal lung morphology, Aspiration pneumonia	ORPHA:646
Semilobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Failure to thrive, Aspiration pneumonia	ORPHA:93924
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Doors Syndrome	Aspiration pneumonia	ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Aspiration pneumonia	ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis	ORPHA:642
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia	OMIM:147920
Yunis-Varon Syndrome	Failure to thrive in infancy, Severe failure to thrive, Small for gestational age, Aspiration pne...	OMIM:216340
Pmm2-Cdg	Insulin resistance, Failure to thrive, Aspiration pneumonia, Hyperinsulinemia, Pericarditis	ORPHA:79318
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Skin rash, Failure to thrive	OMIM:612714

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 Cox4i2

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 Cox4i2.

No publications found that use IMPC mice or data for Cox4i2.

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
Cox4i2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cox4i2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cox4i2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Cox4i2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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