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Gene: Cox4i2 MGI:2135755

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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:
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.

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
Asthma, Failure to thrive, Skin rash, Allergic rhinitis OMIM:612714

The table below shows human diseases predicted to be associated to Cox4i2 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
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
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
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:612387
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
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, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT... OMIM:614742
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Dyspnea, Chronic pu... ORPHA:1163
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... ORPHA:90060
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Erysipelas, Pulmonary fibrosis OMIM:615704
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Immunodeficiency 104
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Otitis media, Failure to thrive secondary t... OMIM:608971
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, R... ORPHA:47612
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... OMIM:618394
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... ORPHA:81
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi... OMIM:618986
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Eczematoid dermatitis, Pneumonia OMIM:269840
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Niemann-Pick Disease, Type B
Decreased DLCO, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Dys... OMIM:607616
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia OMIM:617638
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Failure to thrive, Pulmonary fibr... ORPHA:52047
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Hermansky-Pudlak Syndrome 4
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Emphysema, Pulmonary fibrosis OMIM:620365
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Polymyositis
Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Weight loss,... ORPHA:732
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthritis, Pulmonary... OMIM:619510
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, Ulcerative coli... OMIM:618935
Microlissencephaly
Pneumonia ORPHA:1083
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Restrictive ventilatory defect, Pulmonary fibrosis OMIM:619767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar... OMIM:601457
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Dyspnea, Myocarditis, Abnormal pulmonary interstiti... ORPHA:809
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Pustule, Tachypnea, Pul... OMIM:615934
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Pulmonary ... OMIM:612852
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia OMIM:619057
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ... ORPHA:70588
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, T... ORPHA:36238
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Colitis, Abnormal pulmonary interstitial morphology... OMIM:613101
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Neonatal Alloimmune Neutropenia
Pneumonia, Maternal diabetes ORPHA:464370
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Sarcoidosis, Susceptibility To, 1
Dyspnea, Iridocyclitis, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Uv... OMIM:181000
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent ot... OMIM:607594
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Failure to thrive in infancy, Chronic mucocutaneous candidiasis... ORPHA:79124
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Asthma, Failure to thrive OMIM:607271
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Arthritis ORPHA:220393
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumonia, Abnormal ... OMIM:619644
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Typhoid
Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Cough, Infectious encephalitis ORPHA:99745
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent intrapulmonary hemorrhage, E... ORPHA:900
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Arthritis, Recurrent otitis media, Recurrent upper and lower respirato... ORPHA:397596
Hermansky-Pudlak Syndrome 1
Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar... OMIM:203300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Inte... OMIM:615952
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Cough OMIM:619013
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Dyspnea, Weight loss, Restrictive ventilatory defect, Arthriti... ORPHA:93672
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis, Failure to thrive OMIM:300400
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Pulmo... ORPHA:35687
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Inflamm... OMIM:618108
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory failure, Pulmonary fibrosis, Respiratory insufficiency OMIM:607625
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 52
Failure to thrive, Recurrent pneumonia, Bronchiectasis, Chronic lung disease OMIM:617514
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Bone Marrow Failure Syndrome 5
Pulmonary fibrosis OMIM:618165
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Cough... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... ORPHA:436159
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... ORPHA:183675
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Small for gestational age, Eczema, Failure to thrive in infancy OMIM:617241
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... ORPHA:454836
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Dyspnea, Myocarditis,... ORPHA:90291
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Salmonella... OMIM:209950
Dyskeratosis Congenita, Autosomal Dominant 3
Decreased DLCO, Pulmonary fibrosis OMIM:613990
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Inflammatory abnormality of the skin, Cholangitis, Eczema, Pulmonary emboli... ORPHA:3260
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:608184
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive OMIM:226990
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Periodontitis, Pulmonary fibrosis, Chronic oral candidiasis, Recurrent otiti... OMIM:608233
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary edema ORPHA:330001
Fusariosis
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, Keratitis, Hype... ORPHA:228119
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Myocarditis, Abnormal pulmonary interstitial morp... ORPHA:221
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Otitis media, Chronic oral candidiasis, ... ORPHA:169160
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Pulmonary fibrosis OMIM:613989
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Apnea, Hypoglycemia, Bronchiectasis, Respiratory insufficiency, Aspira... OMIM:618253
Overlap Myositis
Diabetes mellitus, Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arthritis, P... ORPHA:206572
Gaucher Disease, Type I
Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension OMIM:230800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Pneumonia, Chronic bronchitis OMIM:614069
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Osteoarthritis, Fasting hyperinsulinemia, Insulin resistance, Increased bod... ORPHA:2298
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology ORPHA:206569
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Hermansky-Pudlak Syndrome
Dyspnea, Epistaxis, Pulmonary fibrosis, Weight loss ORPHA:79430
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Chronic bronchitis, Failure to thrive OMIM:242860
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Py... OMIM:242700
Dyskeratosis Congenita, Autosomal Recessive 1
Pulmonary fibrosis OMIM:224230
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... OMIM:300755
Timothy Syndrome
Pulmonary arterial hypertension, Hypoglycemia, Pneumonia, Bronchitis OMIM:601005
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Erythema nodosum, Dyspnea, Abnormal lung mor... ORPHA:797
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Immunodeficiency 58
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... OMIM:618131
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... OMIM:243700
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology OMIM:617050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... OMIM:606367
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Weight loss, Tubu... ORPHA:139402
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Good Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Diabetes mellitus, Dyspne... ORPHA:169105
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, H... ORPHA:37042
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Hypox... ORPHA:199241
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... OMIM:616433
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Pulmonary fibrosis OMIM:612199
Gaucher Disease
Osteomyelitis, Osteoarthritis, Abnormal pulmonary interstitial morphology, Respiratory insufficie... ORPHA:355
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Al Amyloidosis
Dyspnea, Nonproductive cough, Abnormal pulmonary interstitial morphology, Pulmonary interstitial ... ORPHA:85443
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Pulmonary fibrosis, Weight loss ORPHA:3337
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Cough, Recurrent cutaneous fungal infe... ORPHA:276
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Abnormal pulmonary interstitial morphology, Pulmonary... ORPHA:2072
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... ORPHA:26793
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... ORPHA:227990
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Gl... ORPHA:289390
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Nephritis, Infectious encephalitis, ... ORPHA:2552
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Iridocyclitis, Hepatitis, Abnormal pulmonary interstitial morphology, Chronic... ORPHA:227982
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Bronchiolitis obliterans o... OMIM:619802
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis OMIM:619652
Omenn Syndrome
Failure to thrive, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Brucellosis
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Arteritis, Ple... ORPHA:1304
Bloom Syndrome
Diabetes mellitus, Skin rash, Pneumonia, Bronchitis, Small for gestational age, Respiratory tract... ORPHA:125
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Gaucher Disease Type 1
Pulmonary arterial hypertension, Osteoarthritis, Abnormal pulmonary interstitial morphology ORPHA:77259
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Recurrent upper respiratory tract infections, Otitis media, Recurrent lower... OMIM:613179
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 Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Dyskeratosis Congenita, X-Linked
Restrictive ventilatory defect, Conjunctivitis, Pulmonary fibrosis, Blepharitis OMIM:305000
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
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, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic or... ORPHA:83471
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Hypoglycemia, Tachypnea, Abnormal pulmonary interstitial morphology, R... OMIM:613658
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent ... OMIM:601495
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Recurrent upper respiratory tract infections, Pneumonia, Otitis media OMIM:602450
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Hepatitis, Abnormal pulmonary inters... ORPHA:2331
Shigellosis
Failure to thrive in infancy, Pneumonia, Hypoglycemia, Myocarditis, Peritonitis, Uveitis, Ulcerat... ORPHA:810
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, Asthma, Recurrent pneumoni... OMIM:102700
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Omenn Syndrome
Failure to thrive, Pneumonia, Erythroderma OMIM:603554
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia OMIM:230900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Gaucher Disease Type 3
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... ORPHA:77261
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Pneumonia ORPHA:90790
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... OMIM:607944
Chronic Graft Versus Host Disease
Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiectasis, Weight ... ORPHA:99921
Infection-Related Hemolytic Uremic Syndrome
Diabetes mellitus, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Pleural empyema,... ORPHA:544482
Listeriosis
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... ORPHA:533
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Hennekam-Beemer Syndrome
Failure to thrive, Pneumonia, Respiratory insufficiency ORPHA:2135
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Cough, Erythema nodosum,... ORPHA:228123
Cholera
Tachypnea, Hypoglycemia, Aspiration pneumonia, Hyperventilation ORPHA:173
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Kikuchi-Fujimoto Disease
Skin rash, Pustule, Myocarditis, Abnormal pulmonary interstitial morphology, Weight loss, Pleural... ORPHA:50918
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia, Osteomyelitis, Re... ORPHA:2968
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Acute tubulointerstitial... ORPHA:340
Mirage Syndrome
Hypoglycemia, Aspiration pneumonia, Decreased body weight OMIM:617053
Chops Syndrome
Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lung di... OMIM:616368
Gm1 Gangliosidosis
Recurrent respiratory infections, Weight loss, Aspiration pneumonia, Failure to thrive, Infectiou... ORPHA:354
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Bronchiect... OMIM:619381
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one second, Asth... ORPHA:586
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Fanconi Anemia, Complementation Group F
Failure to thrive, Pneumonia OMIM:603467
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Diabetes mellitus, Failure to thrive ORPHA:811
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatitis, Atopic dermatitis, Weight loss, ... OMIM:615846
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Chronic Visceral Acid Sphingomyelinase Deficiency
Progressive pulmonary function impairment, Respiratory failure requiring assisted ventilation, Ab... ORPHA:77293
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious encephalitis ORPHA:68
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneum... ORPHA:397715
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Decreased bod... OMIM:602535
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal lung morphology, Urin... ORPHA:449395
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Aspira... ORPHA:581
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Truncal obesity, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Hyperglyc... ORPHA:444077
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... ORPHA:707
Degcags Syndrome
Small for gestational age, Pneumonia, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypert... OMIM:619488
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Peritonitis, Cough, Recurrent otitis media, Hyperinsulinemi... OMIM:619991
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Failure to thrive ORPHA:353281
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Asthma, Obesity, Otitis media, Aspiration, Failure t... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Failure to thrive, Small for gestational age, Pneumonia OMIM:264090
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Asthma, Failure to thrive, Skin rash, Allergic rhinitis OMIM:612714
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ... OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Insulin resistance, Hyperinsulinemia, Aspiration pneumonia, F... 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 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
Cox4i2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cox4i2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cox4i2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cox4i2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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