Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
integrin alpha 9
Synonyms:
2610002H11Rik,  D9Ertd428e,  6720458D17Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Itga9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itga9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovascular syst... ORPHA:50251
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Respiratory insufficiency OMIM:260530
Lymphangiectasia, Pulmonary, Congenital
Pulmonary lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Ascites... OMIM:265300
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Chronic pulmonary obstruction, Growth delay, Ascites, Pulmonary arterial hypert... ORPHA:2414
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... OMIM:618773
Primary Effusion Lymphoma
Dyspnea, Pleural effusion, Pericardial effusion ORPHA:48686
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ... OMIM:267450
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Pharyngeal edema, Angioedema, Facial edema, Upper airway obstruction, Respiratory d... ORPHA:100057
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Bronchopulmonary Dysplasia
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... ORPHA:70589
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... ORPHA:411703
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Hypertension, Subpleural honeycombing, Crac... ORPHA:79126
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... OMIM:610476
Radio-Renal Syndrome
Severe short stature, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylo... ORPHA:3015
Staphylococcal Necrotizing Pneumonia
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... ORPHA:36238
Lymphatic Malformation 6
Lymphedema, Nonimmune hydrops fetalis, Ascites, Short stature, Edema, Genital edema, Facial edema... OMIM:616843
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Cough, Pleuropulmonary blastoma ORPHA:64741
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, ... ORPHA:199241
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure OMIM:613255
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Hydrops... ORPHA:45452
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Lymphangioleiomyomatosis
Lymphedema, Chylopericardium, Ascites, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Gastr... ORPHA:538
Recurrent Respiratory Papillomatosis
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... ORPHA:60032
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Short stature, Respiratory insufficiency due to muscle weakness, Polyhydr... OMIM:300580
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Hypersensitivity pneumonitis, Asthma, Nonproductive cough, Restric... ORPHA:2902
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, A... ORPHA:264675
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Rhinorrhea, Cough, Arrhythmia, Pulmonary edema, Cardiorespiratory arre... ORPHA:188
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions ORPHA:137935
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Severe short stature OMIM:245590
Capillary Malformation-Arteriovenous Malformation
Lymphedema, Telangiectasia, Nonimmune hydrops fetalis, Epistaxis, Cerebral ischemia, High-output ... ORPHA:137667
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hydrops Fetalis
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Capillary leak, Polyhydramnios, Pleural... ORPHA:1041
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Intracranial hemorrhage, Pneumonia, Bronchiectasis, Rhi... ORPHA:1163
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest, Recurrent respirato... ORPHA:77260
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... ORPHA:70587
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Pulmonary insufficiency, Intrauterine growth retardation, Atelectasis, Pneum... ORPHA:70588
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Perching Syndrome
Respiratory distress OMIM:617055
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Cough, Decreased DLCO, Pulm... OMIM:234810
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Polyhydramnios, Chylothorax OMIM:619036
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation ORPHA:1832
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Intrauterine growth retardation, Respiratory distress, Postnatal growth retardation... OMIM:616733
Acute Lung Injury
Shock, Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Abnormal pulmonary interstit... ORPHA:178320
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... ORPHA:2038
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Mitral regurgitation, Short stature, Chylothorax, Polyhydramnios, Aortic valve stenosis, Lymphedema OMIM:613563
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Follicular Lymphoma
Pleural effusion, Lymphedema ORPHA:545
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Con... ORPHA:454836
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia ORPHA:871
Scedosporiosis
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... ORPHA:449280
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Reduced ejection fraction, Tachypnea, Tachycardia, Heart block, Arrhythmia, Pulmonary ... ORPHA:542323
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Ascites, Abnormality of the pulmonary vascula... ORPHA:284227
Hennekam Syndrome
Pulmonary lymphangiectasia, Mild postnatal growth retardation, Respiratory insufficiency, Pericar... ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Asbestos Intoxication
Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... ORPHA:2302
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Respiratory distress,... ORPHA:1302
Meige Disease
Predominantly lower limb lymphedema, Laryngeal edema, Edema of the dorsum of hands, Facial edema,... ORPHA:90186
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Ascites, Palmar telangiectasia, Palpebral edema, Pleural effusion, Hydrop... ORPHA:69735
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Respiratory distress, Low-output congestive heart failure ORPHA:91130
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Facial edema, Respiratory distress, Pulmo... OMIM:617300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Pericardial effusion, Ascites, Angioedema, Cough, Small vessel vasculitis, Re... ORPHA:36412
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abn... ORPHA:2032
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Tularemia
Pneumonia, Cough, Tachycardia, Respiratory distress, Pleural effusion ORPHA:3392
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, Mitral regurgitation, Tricuspid regurg... ORPHA:75249
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Syncope, Paroxysmal atrial fibrillation, Reduced ejection ... ORPHA:1677
Ovarian Hyperstimulation Syndrome
Ascites, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Cap... ORPHA:64739
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Lung abscess, Cough, Pleural empyema, Congestive heart failure, Dyspne... ORPHA:67
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Ascites, Edema, Anasarca, Facial edema, Respiratory tract infection, Pulmonary embo... ORPHA:567546
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Short stature, Polyhydramnios, Pulmonic stenos... OMIM:615355
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Dyspnea, Atrial fibrillation, Mitral regurgitation OMIM:617047
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Lethal Recessive Chondrodysplasia
Respiratory distress, Edema, Polyhydramnios ORPHA:1423
Congenital Enterovirus Infection
Myocarditis, Fetal ascites, Pericardial effusion, Cardiomyopathy, Polyhydramnios, Respiratory dis... ORPHA:292
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Pleural effusion, Joint swelling ORPHA:85414
Monosodium Glutamate Sensitivity
Palpitations, Dyspnea OMIM:231630
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Bronchiectasis, Ventricular tachycard... ORPHA:797
Pontocerebellar Hypoplasia, Type 13
Edema, Asthma, Sleep apnea, Recurrent respiratory infections, Pleural effusion OMIM:618606
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Immunodeficiency 91 And Hyperinflammation
Edema, Pulmonary hemorrhage, Recurrent lower respiratory tract infections, Abnormal pulmonary int... OMIM:619644
Hemochromatosis, Type 1
Telangiectasia, Ascites, Cardiomyopathy, Congestive heart failure, Pleural effusion, Arrhythmia OMIM:235200
Idiopathic/Heritable Pulmonary Arterial Hypertension
Syncope, Palpitations, Elevated jugular venous pressure, Pulmonary arterial hypertension, Tricusp... ORPHA:422
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Leukodystrophy, Hypomyelinating, 17
Respiratory distress, Short stature OMIM:618006
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... ORPHA:99105
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Chylothorax, Severe short stature, Pleural effusion, Lymphedema ORPHA:2526
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough, Hypotension ORPHA:99825
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ascites, Polyhydramnios, Pulmonary ... OMIM:616897
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... OMIM:265120
Chitayat Syndrome
Short stature, Polyhydramnios, Respiratory distress, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Ring Chromosome 22 Syndrome
Edema, Pleural effusion, Growth delay, Lymphedema ORPHA:1446
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Solar Urticaria
Wheezing, Syncope, Angioedema, Edema, Dyspnea, Periorbital edema ORPHA:97230
Familial Dilated Cardiomyopathy
Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... ORPHA:217607
Acquired Methemoglobinemia
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Dyspnea, Arrhythmia ORPHA:464453
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Short stature, Chylothorax, Pulmonic stenosis, Postnatal growth reta... OMIM:163950
Fryns Syndrome
Pulmonary hypoplasia, Stillbirth, Polyhydramnios, Chylothorax OMIM:229850
Gorham-Stout Disease
Edema, Rhinorrhea, Pleural effusion ORPHA:73
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Slc35A1-Cdg
Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Pneumonia ORPHA:238459
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Crackles, Exe... ORPHA:563
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Dyspnea, Ventricular tachycardia, Cardiomyopathy OMIM:613873
Malaria
Respiratory distress ORPHA:673
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Abnormal pleura morphology, Pulmonary fibrosis, Restricti... ORPHA:210136
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... OMIM:606763
X-Linked Centronuclear Myopathy
Pneumonia, Polyhydramnios, Respiratory distress, Recurrent respiratory infections, Respiratory fa... ORPHA:596
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Hereditary Angioedema Type 1
Tongue edema, Pharyngeal edema, Edema of the dorsum of hands, Intestinal edema, Facial edema, Res... ORPHA:100050
Hemorrhagic Fever-Renal Syndrome
Shock, Hypertension, Intracranial hemorrhage, Pneumonia, Palpitations, Subconjunctival hemorrhage... ORPHA:340
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Ascites, Edema, Raynaud phenomenon, Dyspnea, Pleural effusion ORPHA:93552
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Cough, Abnormal... ORPHA:464329
Malignant Atrophic Papulosis
Ischemic stroke, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal hemorrhage, ... ORPHA:679
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Waldenström Macroglobulinemia
Respiratory insufficiency, Epistaxis, Gastrointestinal hemorrhage, Vasculitis, Congestive heart f... ORPHA:33226
Idiopathic Pulmonary Arterial Hypertension
Syncope, Palpitations, Pulmonary arterial hypertension, Tricuspid regurgitation, Elevated pulmona... ORPHA:275766
Cholestasis, Progressive Familial Intrahepatic, 5
Nonimmune hydrops fetalis, Pleural effusion, Ascites OMIM:617049
Primary Intestinal Lymphangiectasia
Pericardial effusion, Ascites, Growth delay, Edema, Pleural effusion, Generalized edema ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Q Fever
Myocarditis, Pericarditis, Pericardial effusion, Pneumonia, Cough, Respiratory distress, Vasculit... ORPHA:781
Poems Syndrome
Pericardial effusion, Ascites, Respiratory insufficiency due to muscle weakness, Pulmonary arteri... ORPHA:2905
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Intrauterine growth retardation ORPHA:261304
Complete Atrioventricular Septal Defect
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Diarrhea 10, Protein-Losing Enteropathy Type
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion, Hematochezia OMIM:618183
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Pericardial effusion, Ascites, Atrioventricular block, Left... OMIM:115197
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough, Cardiomyopathy ORPHA:86812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Short stature, Recurrent pneumonia, Pulmonary fibrosis, Pleural effusion OMIM:618935
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Recurrent respiratory infections, Decreased DLCO, Rest... OMIM:610910
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional dyspnea, Angina p... OMIM:265400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... ORPHA:99106
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Nocardiosis
Productive cough, Pericarditis, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonprod... ORPHA:31204
Myotonic Dystrophy 1
Atrial fibrillation, Polyhydramnios, Respiratory distress, Atrial flutter, First degree atriovent... OMIM:160900
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion OMIM:108050
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Tachycardia, Respiratory distress, Respiratory failure, D... ORPHA:330021
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Adult Acute Respiratory Distress Syndrome
Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Vasculitis, Pulmonary edema, Respiratory f... ORPHA:70578
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Polyhydramnios, Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Hellp Syndrome
Cerebral hemorrhage, Generalized edema, Pulmonary edema, Internal hemorrhage, Pleural effusion, H... ORPHA:244242
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Pericardial effusion, Pleural lymphangiectasia, Pleural effusi... OMIM:235510
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Angioedema, Cough, Raynaud phenomenon, Vasculiti... ORPHA:3260
Cryptococcosis
Pneumonia, Cough, Respiratory distress, Cerebral edema, Nodular pattern on pulmonary HRCT, Dyspne... ORPHA:1546
Erdheim-Chester Disease
Cough, Abnormal pulmonary interstitial morphology, Congestive heart failure, Pulmonary fibrosis, ... ORPHA:35687
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Short stature, Mitral stenosis, Pulmonic steno... OMIM:616564
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Pericardial effusion, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated... OMIM:181000
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Telangiectasia, Hypertension, Pulmonary artery vasoconstriction, Pulmo... OMIM:178600
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle w... ORPHA:308552
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... OMIM:211530
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Abnormal nasal mucus secretion... ORPHA:137914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Edema, Anasarca, Intestinal bleeding, Intes... ORPHA:90363
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Nonimmune hydrops fetalis, Respiratory insufficiency, Ascites, Polyhydram... ORPHA:367
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Cocaine Intoxication
Wheezing, Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachy... ORPHA:90068
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay ORPHA:289916
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Polyhydramnios OMIM:300219
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Dyspnea ORPHA:2004
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... ORPHA:439
Craniofaciofrontodigital Syndrome
Pericardial effusion, Mitral regurgitation, Short stature, Edema, Pulmonary arterial hypertension... ORPHA:363705
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress, Growth delay ORPHA:79242
Fixed Subaortic Stenosis
Syncope, Mitral regurgitation, Systolic heart murmur, Palpitations, Aortic regurgitation, Pulmoni... ORPHA:3092
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Crackles, Systolic hea... ORPHA:99095
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Aortic Arch Interruption
Shock, Hypertension, Systolic heart murmur, Tachypnea, Aortic regurgitation, Aortopulmonary windo... ORPHA:2299
Zygomycosis
Sinusitis, Myocarditis, Pericarditis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Melena, Periorb... ORPHA:73263
Greenberg Dysplasia
Nonimmune hydrops fetalis, Abnormal lung lobation, Neonatal death, Rhizomelia, Disproportionate s... OMIM:215140
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Tetanus
Hypertension, Tachypnea, Bradycardia, Tachycardia, Respiratory distress ORPHA:3299
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress, Postnatal growth retardation, Congestive h... ORPHA:3309
Cardiogenic Shock
Right ventricular failure, Hypoxemia, Crackles, Mitral regurgitation, Low pulse pressure, Elevate... ORPHA:97292
Fusariosis
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Hypersensitivity pneumoniti... ORPHA:228119
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... ORPHA:141083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Pericardial effusion, Pneumonia, Tachypnea, Atriov... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Leptospirosis
Pericarditis, Subconjunctival hemorrhage, Cough, Pulmonary hemorrhage, Respiratory distress, Arrh... ORPHA:509
Diaphanospondylodysostosis
Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory insufficiency, Respiratory dis... OMIM:608022
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... ORPHA:99104
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary arterial hypertension, Cough, Vasculitis, Cardiorespiratory ... ORPHA:228116
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Tachycardia, Episodic tachypnea, Respiratory distress, Dyspnea, Inter... ORPHA:348
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Intrauterine growth re... OMIM:619573
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Respiratory distress, Recurrent respiratory infections, P... OMIM:184260
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Scimitar Syndrome
Left-to-right shunt, Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial... ORPHA:185
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pneumonia, Edema, Hypertensive crisis, Pleuritis, Pleural empyema, Res... ORPHA:544482
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Cough, Congestive heart failure, Dyspnea, Heart murmur ORPHA:1054
Colchicine Poisoning
Myocarditis, Dehydration, Cardiogenic shock, Respiratory distress, Cardiorespiratory arrest, Cong... ORPHA:31824
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Pulmonary lymphangiectasia, Neonatal respiratory distress, Pulmonary art... OMIM:265380
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Respiratory distress OMIM:608799
Eisenmenger Syndrome
Wheezing, Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Exerti... ORPHA:97214
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... ORPHA:70474
Behçet Disease
Pericarditis, Mitral regurgitation, Aortic regurgitation, Pleuritis, Cerebral ischemia, Myocardia... ORPHA:117
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... ORPHA:98915
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thi... ORPHA:60025
Familial Mediterranean Fever
Pericarditis, Pleuritis, Pleural effusion OMIM:249100
Gaucher Disease, Perinatal Lethal
Nonimmune hydrops fetalis, Intrauterine growth retardation, Ascites, Neonatal death, Apnea, Polyh... OMIM:608013
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Lujo Hemorrhagic Fever
Myocarditis, Shock, Crackles, Rhinitis, Subconjunctival hemorrhage, Bradycardia, Facial edema, Pe... ORPHA:319213
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Coccidioidomycosis
Pericarditis, Pneumonia, Vasospasm, Cough, Cerebral ischemia, Pleural empyema, Respiratory distre... ORPHA:228123
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Growth delay, Short stature, Pulmonary arterial hypertension, Resp... ORPHA:209905
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Pleural effusion, Intrauterine growth retardation ORPHA:453499
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea, Growth delay ORPHA:2707
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Respiratory insufficiency, Apnea, Res... OMIM:608836
Chédiak-Higashi Syndrome
Pericardial effusion, Edema, Epistaxis, Recurrent respiratory infections, Pleural effusion ORPHA:167
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Pneumothorax, Neonatal death, Respiratory distress, Oligohydramn... OMIM:266910
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Absence Of The Pulmonary Artery
Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... ORPHA:980
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Shock, Pneumonia, Tachypnea, Edema, Tachycardia, Respiratory distress, Re... ORPHA:36234
Chronic Graft Versus Host Disease
Wheezing, Bronchiolitis obliterans, Airway obstruction, Ascites, Bronchiectasis, Xerostomia, Pneu... ORPHA:99921
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Ethylene Glycol Poisoning
Shock, Hypertension, Episodic respiratory distress, Prolonged QT interval, Abnormal pattern of re... ORPHA:31826
Mogs-Cdg
Edema, Apnea, Polyhydramnios, Respiratory distress, Pulmonary edema, Hypoventilation, Generalized... ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Exertional dyspnea, Respiratory insufficiency due to muscle weakness... OMIM:220110
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Congenital Tracheal Stenosis
Wheezing, Fetal ascites, Pulmonary artery atresia, Abnormal lung lobation, Polyhydramnios, Upper ... ORPHA:141127
Farber Disease
Respiratory insufficiency, Atelectasis, Ascites, Short stature, Respiratory distress, Recurrent u... ORPHA:333
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Left ventricular outflow tract obstructio... ORPHA:365
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Intrauterine growth retardation, Growth delay, Tricuspid regurgitation OMIM:612863
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Disproportionate short-trunk short stature OMIM:156550
Brucellosis
Myocarditis, Pericarditis, Lung abscess, Pneumonia, Transient ischemic attack, Arteritis, Pulmona... ORPHA:1304
Primary Sclerosing Cholangitis
Spider hemangioma, Ascites, Congestive heart failure, Palmar telangiectasia, Portal hypertension,... ORPHA:171
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios ORPHA:329178
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Pulmonary artery ... ORPHA:3342
Campomelic Dysplasia
Tracheobronchomalacia, Neonatal short-limb short stature, Apnea, Disproportionate short-limb shor... OMIM:114290
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:231680
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Diamond-Blackfan Anemia 10
Respiratory distress, Growth delay, Short stature OMIM:613309
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Recurrent bronchopulmonary infections, Respiratory distress, Recurre... OMIM:617303
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Recurrent respiratory infections, Episodic respiratory distress OMIM:301790
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Hypertrophic cardiomyopathy, Respiratory distress, Recurrent respiratory infections OMIM:619383
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Hypercapnia,... OMIM:164310
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Moebius Syndrome
Respiratory distress OMIM:157900
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Sepsis In Premature Infants
Abnormal respiratory system physiology, Edema, Tachycardia, Bradycardia, Abnormal mucociliary cle... ORPHA:90051
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Toxic Epidermal Necrolysis
Cough, Respiratory distress, Gastrointestinal hemorrhage, Abnormal pleura morphology, Restrictive... ORPHA:537
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Tracheomalacia, Neonatal respiratory distress, Cardiomyopathy OMIM:217980
Kikuchi-Fujimoto Disease
Myocarditis, Vasculitis in the skin, Vasculitis, Abnormal pulmonary interstitial morphology, Palp... ORPHA:50918
Multiple Myeloma
Pleural effusion ORPHA:29073
Thrombotic Thrombocytopenic Purpura, Hereditary
Myocardial infarction, Respiratory distress, Transient ischemic attack OMIM:274150
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Pulmonary fibrosis OMIM:612852
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Growth delay... ORPHA:1199
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Stridor, Mitral regurgitation, Pulmonary arterial hypertension, Tach... ORPHA:505248
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Intrauterine growth retardation, Growth delay, Subdural hemorrhage, Pulmo... ORPHA:79282
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Cardiac conduction abnormality, Apnea, Cardiomyopathy, Respiratory distress, Asp... ORPHA:2131
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Neonatal short-trunk short stature OMIM:183900
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Abnormal heart rate variability ORPHA:206436
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces, Respiratory distress, O... ORPHA:536467
Mgat2-Cdg
Recurrent upper and lower respiratory tract infections, Reflex asystolic syncope, Respiratory dis... ORPHA:79329
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory paralysis, Respiratory distress, Cerebral edema, Pul... ORPHA:79139
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Growth delay, Pneumonia, Pneumothorax, Edema, Bradycardia, Respi... ORPHA:79404
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Short stature OMIM:260400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Apneic episodes in infancy, Paroxysmal dyspnea, Mixed total anomalous ... ORPHA:99125
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Episodic respiratory distress, Cardiac condu... ORPHA:255210
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Pericardial effusion, Palpitat... ORPHA:358
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Ramos-Arroyo Syndrome
Xerostomia, Respiratory distress, Severe short stature ORPHA:1051
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Growth delay, Severe short stature, Respiratory distress, Respir... ORPHA:2554
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Growth delay, Apnea, Respiratory distress, Recurrent respiratory inf... ORPHA:17
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Short stature, Respiratory distress, Oligohydramnios, Recurrent ... ORPHA:177907
Listeriosis
Myocarditis, Pericarditis, Pneumonia, Respiratory distress, Arteritis, Congestive heart failure, ... ORPHA:533
Microphthalmia With Linear Skin Defects Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Growth delay, Mitral regurgitation, Tricuspi... ORPHA:2556
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Birth length less than 3rd percentile, Pneumothorax, Resp... ORPHA:3404
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature, Polyhydramnios OMIM:617088
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Apnea, Respiratory distress, Oligohydramnios, Asthma ORPHA:3206
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Melena, Pulmonary arteriovenous malformation, Exertional dyspne... OMIM:187300
Meier-Gorlin Syndrome 1
Birth length less than 3rd percentile, Respiratory distress, Intrauterine growth retardation OMIM:224690
Isolated Arrhinia
Respiratory distress ORPHA:1134
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Recurrent respiratory infections, Pneumonia ORPHA:37042
Adnp Syndrome
Respiratory distress, Aspiration, Short stature, Recurrent upper respiratory tract infections ORPHA:404448
Arboleda-Tham Syndrome
Neonatal respiratory distress, Intrauterine growth retardation, Pulmonic stenosis, Respiratory di... OMIM:616268
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Central sleep apnea OMIM:615273
Osteoglophonic Dysplasia
Respiratory distress, Rhizomelia OMIM:166250
Tuberous Sclerosis Complex
Hypertension, Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory tract infection, ... ORPHA:805
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth ret... ORPHA:83617
Cleidocranial Dysplasia
Respiratory distress, Moderately short stature, Neonatal respiratory distress OMIM:119600
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Pulmonic stenosis OMIM:306955
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Respiratory distress, Abnormal pulmonary int... OMIM:614748
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Respiratory distress OMIM:305100
Generalized Arterial Calcification Of Infancy
Hypertension, Pericardial effusion, Ascites, Edema, Pulmonary arterial hypertension, Left ventric... ORPHA:51608
Plague
Edema, Tachycardia, Respiratory distress, Acute infectious pneumonia, Hematemesis, Arrhythmia, Hy... ORPHA:707
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intrauterine growth retardation, Pulmonic stenosis, Respiratory distress, Oligohydramnios, Pulmon... ORPHA:2255
Rubinstein-Taybi Syndrome 1
Obstructive sleep apnea, Short stature, Growth delay, Polyhydramnios, Respiratory distress, Recur... OMIM:180849
Schinzel-Giedion Syndrome
Respiratory distress, Pulmonary hypoplasia, Recurrent pneumonia ORPHA:798
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Asthma ORPHA:466943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Rhinitis, Xerostomia, Cough, Respiratory distress, Chronic lung disease, Respiratory f... ORPHA:95455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short stature, Recurrent upper and lower respiratory tract infections, Cardiomyopathy, Respirator... ORPHA:480880
Doors Syndrome
Respiratory distress, Aspiration pneumonia, Polyhydramnios ORPHA:79500
8Q24.3 Microdeletion Syndrome
Intrauterine growth retardation, Short stature, Abnormal lung lobation, Infancy onset short-trunk... ORPHA:508488
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Intrauterine growth retardation, Growth delay, Short stature, Respiratory distress, Recurrent pne... ORPHA:99646
Pmm2-Cdg
Hypertrophic cardiomyopathy, Lymphedema, Intracranial hemorrhage, Pericarditis, Pericardial effus... ORPHA:79318
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Chronic pulmonary obstruction, Chronic bronchitis, Short st... ORPHA:64

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 Itga9

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 Itga9.

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

Title Journal IMPC Allele PubMed ID
Integrin α9β1 in airway smooth muscle suppresses exaggerated airway narrowing. The Journal of clinical investigation (July 2012) Itga9tm1(KOMP)Vlcg PMC3448403

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MGI Allele Allele Type Produced
Itga9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Itga9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Itga9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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