Not currently registered for phenotyping at IMPC

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

Gene Summary

integrin alpha 9
2610002H11Rik,  D9Ertd428e,  6720458D17Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Respiratory insufficiency OMIM:260530
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Chylous... OMIM:265300
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Tricuspid regurgitation, Chronic pulmonary obstruction, P... ORPHA:2414
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... ORPHA:100057
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Right ventricular failure, Abnormal r... ORPHA:70589
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... ORPHA:3015
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Hypotensi... ORPHA:36238
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:616843
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial... ORPHA:723
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary arterial hyperte... OMIM:619751
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Polyhydramnios, Dilated cardiomyopathy, Respiratory insuffic... OMIM:300580
Chylopericardium, Chylothorax, Cough, Pneumothorax, Lymphedema, Restrictive ventilatory defect, E... ORPHA:538
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... ORPHA:60032
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Systemic Capillary Leak Syndrome
Pulmonary edema, Arrhythmia, Hypotension, Myocarditis, Cough, Pedal edema, Rhinorrhea, Pleural ef... ORPHA:188
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Cerebral ischemia, ... ORPHA:137667
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Wheezing, Restrictive ventilatory defect, Pleural effusion... ORPHA:2902
Gaucher Disease Type 2
Respiratory distress, Cough, Abnormal pattern of respiration, Cardiac arrest, Recurrent respirato... ORPHA:77260
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Asthma, Sinusitis, Chronic pulmonary obstruction, Hypersensitivity pneumonitis, Intracranial hemo... ORPHA:1163
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Perching Syndrome
Respiratory distress OMIM:617055
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Polyhydramnios, Chylothorax OMIM:619036
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... ORPHA:454836
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... ORPHA:70588
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Pulmonary hypoplasia, Hypertension, Oligohydr... OMIM:616733
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure ORPHA:871
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Shock, Pneumonia, Ed... ORPHA:178320
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infections, Bronchiec... OMIM:619466
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Respiratory... ORPHA:70587
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Heart murmur, Co... ORPHA:2038
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Follicular Lymphoma
Lymphedema, Pleural effusion ORPHA:545
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Short stature, Mitral regurgitation, Polyhydramnios, Lymphedema OMIM:613563
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventricular ejecti... ORPHA:542323
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Sinusitis, Pleural empyema, Cough, Pleuritis, Bronchitis, Pneumonia, Abnormal respiratory system ... ORPHA:449280
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... ORPHA:284227
Hennekam Syndrome
Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Respiratory insuffici... ORPHA:2136
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Pla... ORPHA:69735
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Meige Disease
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... ORPHA:90186
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent respiratory infections OMIM:615993
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... OMIM:613838
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, P... ORPHA:75249
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Respiratory distress, Tachycardia, Cough, Pleural effusion, Pneumonia ORPHA:3392
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Cough, Angioedema, Restrictive ventilatory defect, Emphysema, Pleural effusio... ORPHA:36412
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... ORPHA:2302
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Lung abscess, Conge... ORPHA:67
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, Ascites, Cap... ORPHA:64739
Noonan Syndrome 8
Short stature, Pulmonic stenosis, Mitral regurgitation, Polyhydramnios, Pleural effusion, Hypertr... OMIM:615355
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, Pleural effusion... ORPHA:567546
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Pontocerebellar Hypoplasia, Type 13
Asthma, Sleep apnea, Pleural effusion, Edema, Recurrent respiratory infections OMIM:618606
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Congenital Enterovirus Infection
Respiratory distress, Hydrops fetalis, Hypotension, Myocarditis, Polyhydramnios, Pericardial effu... ORPHA:292
Joint swelling, Bronchiectasis, Chylothorax, Arrhythmia, Abnormal pleura morphology, Cough, Pneum... ORPHA:797
Monosodium Glutamate Sensitivity
Dyspnea, Palpitations OMIM:231630
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Pericarditis, Pleural effusion ORPHA:85414
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Congestive heart failure OMIM:235200
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tra... OMIM:619644
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Pleural effu... OMIM:617397
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Edema ORPHA:2526
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Congestive heart failure, Pulmonary edema, Sudden... OMIM:115197
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopa... OMIM:616897
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... OMIM:265120
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Short stature, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Ring Chromosome 22 Syndrome
Growth delay, Pleural effusion, Lymphedema, Edema ORPHA:1446
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmonary artery pressure,... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Right bundle branch block, Dyspnea, Atrial fibrillation, Hypertrophic cardiomyop... OMIM:115195
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Right axis devi... OMIM:232300
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Solar Urticaria
Wheezing, Syncope, Angioedema, Edema, Periorbital edema, Dyspnea ORPHA:97230
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... OMIM:610978
Fryns Syndrome
Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Chylothorax OMIM:229850
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Gorham-Stout Disease
Edema, Pleural effusion, Rhinorrhea ORPHA:73
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... ORPHA:563
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Noonan Syndrome 1
Chylothorax, Short stature, Pulmonic stenosis, Lymphedema, Postnatal growth retardation, Hypertro... OMIM:163950
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Respiratory distress ORPHA:673
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Portal hypertension, Restrict... ORPHA:210136
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... ORPHA:596
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pulmonary edema, Hematemesis, Palpitations, Tachycardia, Intracrani... ORPHA:340
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Pharyngeal edema, Facial edema, Tongue edema, Hypotension... ORPHA:100050
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Pleural effusion, Edema, Dyspnea, Ascites, Pericardial effusion ORPHA:93552
Malignant Atrophic Papulosis
Telangiectasia of the skin, Myocardial infarction, Pleural effusion, Gastrointestinal hemorrhage,... ORPHA:679
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Waldenström Macroglobulinemia
Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edema, Periorbital edema, Pleura... ORPHA:33226
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Cough, Pleural effusion, Subconjunctival hemorrhage, Dyspnea, Abnormal lung ... ORPHA:464329
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Dyspnea, Atrial fibrillation, Hypertrophi... OMIM:613873
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Nonimmune hydrops fetalis, Pleural effusion OMIM:617049
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic heart murmur, Third... ORPHA:1329
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... ORPHA:275766
Primary Intestinal Lymphangiectasia
Pleural effusion, Edema, Generalized edema, Growth delay, Ascites, Pericardial effusion ORPHA:90362
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios, Intrauterine growth retardation ORPHA:261304
Q Fever
Respiratory distress, Abnormal left ventricular function, Vasculitis, Myocarditis, Abnormal pulmo... ORPHA:781
Poems Syndrome
Pulmonary arterial hypertension, Restrictive ventilatory defect, Edema, Pleural effusion, Ascites... ORPHA:2905
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Exertional dyspnea, Pulmonary arterial hyper... OMIM:265400
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Pulmonary fibrosis, Recurrent pneumonia, Pleural effusion, Short stature OMIM:618935
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary aterial intimal fibrosis, Right ventricular failure, Co... OMIM:178600
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... ORPHA:330021
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Atrial flutter, Atrial fibrillation, First degree atriovent... OMIM:160900
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Respiratory distress, Nonproductive cough, Pneumothorax, Pleuritis, Productive cough, Pneumonia, ... ORPHA:31204
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Polyhydramnios, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis OMIM:108050
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios, Respiratory insufficiency due to muscle weakness ORPHA:1143
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, ... ORPHA:70578
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Respiratory distress, Joint swelling, Asthma, Vasculitis in the skin... ORPHA:3260
Erdheim-Chester Disease
Joint swelling, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Dyspnea, Pul... ORPHA:35687
Noonan Syndrome 10
Mitral stenosis, Short stature, Pulmonic stenosis, Mitral regurgitation, Pleural effusion, Hypert... OMIM:616564
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Pleural lymphangiectasia, Lymphedema, Pleural effusion, Perior... OMIM:235510
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pneumonia, Pleural effusion, Dysp... ORPHA:1546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Sarcoidosis, Susceptibility To, 1
Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Left ventricular outflow tract obstruction, Respiratory insufficiency, Hear... ORPHA:308552
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Nonimmune hydrops fetalis, Polyhydramnios, Dilat... ORPHA:367
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Respiratory distress ORPHA:66637
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Fixed Subaortic Stenosis
Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow tract obstruction, Systo... ORPHA:3092
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... OMIM:211530
Aortic Arch Interruption
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... ORPHA:2299
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Chylous ascites, Constrictive pericarditis, Intes... ORPHA:90363
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... ORPHA:439
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Laryngotracheoesophageal Cleft
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respiratory infections ORPHA:2004
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Prolonged QRS complex, Pulmonary edema, Cerebr... ORPHA:90068
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Respiratory distress, Aortic valve stenosis, Lower eyelid edema, Sh... ORPHA:363705
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Systolic heart murm... ORPHA:99095
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay ORPHA:289916
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Tachypnea ORPHA:79242
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Respiratory distress, Short stature ORPHA:166272
Tetrasomy 5P
Respiratory distress, Heart murmur, Pulmonary hypoplasia, Postnatal growth retardation, Pulmonary... ORPHA:3309
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Sinusitis, Lung abscess, Productive cough, Pneumonia, Pleural effusion, Bronchiectasis, Hypersens... ORPHA:228119
Melena, Sinusitis, Hematemesis, Myocarditis, Hematochezia, Acute infectious pneumonia, Cough, Rhi... ORPHA:73263
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachycardia, Arrhythmia, Tachypnea, Dilated cardiomyopa... ORPHA:26793
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Growth delay, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Periorbital edema,... ORPHA:141083
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Pulmonary lymphangiectasia, Right-to-left shunt, Nonimmune hydrops fetal... OMIM:265380
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Disproportionate short-trunk sho... OMIM:608022
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Tachycardia, Apneic episodes in infancy, Dyspnea, Inter... ORPHA:348
Respiratory distress, Pulmonary hemorrhage, Arrhythmia, Retinal hemorrhage, Hypotension, Cough, P... ORPHA:509
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Neonatal death OMIM:300219
Odontochondrodysplasia 1
Respiratory distress, Short stature, Pulmonary hypoplasia, Mesomelic short stature, Recurrent res... OMIM:184260
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Pulmonary embolism, Vasculitis, Cough, Pedal edema, Cardiorespiratory ... ORPHA:228116
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Anomalous pulmonary venous return, Left-to-righ... ORPHA:99104
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Left-to-right s... ORPHA:185
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Heart murmur, Pedal edema, Ri... ORPHA:97214
Aneurysm Of Sinus Of Valsalva
Cough, Heart murmur, Aortic regurgitation, Edema, Dyspnea, Congestive heart failure ORPHA:1054
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Myocarditis, Pleuritis, Pneumonia, Hypertensive crisis, Generalized edema, Hyper... ORPHA:544482
Colchicine Poisoning
Respiratory distress, Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myoca... ORPHA:31824
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Immunodeficiency 87 And Autoimmunity
Growth delay, Third degree atrioventricular block, Pulmonary arterial hypertension, Dilated cardi... OMIM:619573
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Dehydration, Polyhydramnios, Rhizomelia, Recurrent pneumonia, Growth delay,... OMIM:616271
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Pulmonic stenosis, Mitral regurgitation, Central hypoventilation, Di... ORPHA:70474
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... ORPHA:98915
Behçet Disease
Mitral regurgitation, Pulmonary embolism, Vasculitis, Cerebral ischemia, Myocardial infarction, A... ORPHA:117
Respiratory distress, Pleural empyema, Vasculitis, Cerebral ischemia, Cough, Vasospasm, Pneumonia... ORPHA:228123
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Interlobular septal thickening, Bronchiectasis, Subpleural inter... ORPHA:60025
Familial Mediterranean Fever
Pleuritis, Pericarditis, Pleural effusion OMIM:249100
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Pulmonary... OMIM:608013
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Increased nuchal translucency, Pleural effusion ORPHA:453499
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Recurrent respiratory infections, Short stature, Abnormal pulmonary... ORPHA:209905
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Growth delay ORPHA:2707
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Chédiak-Higashi Syndrome
Pleural effusion, Edema, Epistaxis, Pericardial effusion, Recurrent respiratory infections ORPHA:167
Lujo Hemorrhagic Fever
Respiratory distress, Facial edema, Nonproductive cough, Crackles, Hypotension, Myocarditis, Shoc... ORPHA:319213
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Growth delay, Intrauterine growth retardation, Per... OMIM:612863
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dyspnea... OMIM:615745
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia, Pneu... OMIM:266910
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Absence Of The Pulmonary Artery
Bronchiectasis, Growth delay, Pulmonary edema, Systolic heart murmur, Nonproductive cough, Tachyc... ORPHA:980
Granulomatous Disease, Chronic, X-Linked
Ascites, Recurrent pneumonia, Pleural effusion, Cough OMIM:306400
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Tachycardia, Abnormal pattern of respiration, Hyp... ORPHA:31826
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachycardia, Hypotension, Myocarditis, Tachypnea, Shock, Pneumon... ORPHA:36234
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:98914
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Hypertrophic cardiomyopathy, Respiratory failure, Respi... OMIM:220110
Chronic Graft Versus Host Disease
Airway obstruction, Bronchiolitis obliterans, Xerostomia, Cough, Wheezing, Pneumothorax, Pleural ... ORPHA:99921
Respiratory distress, Apnea, Pulmonary edema, Polyhydramnios, Edema, Generalized edema, Hypoventi... ORPHA:79330
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypertrophic cardiomyopathy, Recurrent respiratory infections OMIM:619383
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Polyhydramnios, Palpebral edema ORPHA:50810
Congenital Tracheal Stenosis
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... ORPHA:141127
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Oligohydramnios, Respiratory failure, Respirator... OMIM:615512
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Polyhydramnios, Recurrent respiratory infections ORPHA:329178
Transient ischemic attack, Myocarditis, Pericarditis, Bronchitis, Pulmonary granulomatosis, Pneum... ORPHA:1304
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Dyspnea, Myocarditis, Myocardial infarction, Di... ORPHA:3342
Kniest Dysplasia
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Tracheomalacia OMIM:156550
Farber Disease
Respiratory distress, Joint swelling, Nodular pattern on pulmonary HRCT, Short stature, Respirato... ORPHA:333
Primary Sclerosing Cholangitis
Palmar telangiectasia, Spider hemangioma, Portal hypertension, Pleural effusion, Ascites, Congest... ORPHA:171
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Left ventricular outflow tract obstruction, Respiratory insuff... ORPHA:365
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Dilated cardiomyopathy, Restric... OMIM:164310
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Recurrent pneumonia, Hypertrophic ca... OMIM:617303
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Recurrent respiratory infections OMIM:301790
Moebius Syndrome
Respiratory distress OMIM:157900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Pulmonary fibrosis OMIM:612852
Sepsis In Premature Infants
Tachycardia, Abnormal respiratory system physiology, Hypotension, Abnormal mucociliary clearance,... ORPHA:90051
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Palpebral edema, Abnormal pulmonary interstitial morphology, Vasculitis, ... ORPHA:50918
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Myocardial infarction, Transient ischemic attack OMIM:274150
Toxic Epidermal Necrolysis
Respiratory distress, Sudden cardiac death, Abnormal pleura morphology, Cough, Restrictive ventil... ORPHA:537
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Tracheomalacia OMIM:217980
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pulmonary arteriovenous malformation, Spontaneous pneumothorax, Pleural ... OMIM:606721
Multiple Myeloma
Pleural effusion ORPHA:29073
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Abnormal T-wave, Dehydration, Arrhythmia, Cardiac conduction abnorma... ORPHA:2131
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Tricuspid regurgitation, Hypertrophic cardiomyopathy, M... ORPHA:505248
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dila... ORPHA:79282
Diamond-Blackfan Anemia 10
Respiratory distress, Growth delay, Short stature OMIM:613309
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Neonatal short-trunk short stature, Restrictive ventilatory defect OMIM:183900
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Respiratory distress, Recurrent upper and lower respiratory tract infections, Hydrops fetalis, Ar... ORPHA:79329
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Abnormal pat... ORPHA:79139
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Tracheomalacia, Repeated pneumothoraces, Respiratory insufficiency, Pulmona... ORPHA:536467
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Growth delay, Dehydration, Stridor, Dilated cardiomyopathy, Pneumonia, Edem... ORPHA:79404
Shwachman-Diamond Syndrome 1
Respiratory distress, Short stature, Neonatal respiratory distress OMIM:260400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Cardiac total anomalous pulmonary venous connection, Tricuspid regurgitatio... ORPHA:99125
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dilated cardiomyopathy, Hyperventilation, Cardiac conductio... ORPHA:255210
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Gitelman Syndrome
Respiratory distress, Abnormal T-wave, ST segment depression, Raynaud phenomenon, Palpitations, S... ORPHA:358
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia, Severe short stature ORPHA:1051
Ear-Patella-Short Stature Syndrome
Respiratory distress, Intrauterine growth retardation, Growth delay, Severe short stature, Dyspne... 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
Respiratory distress, Apnea, Growth delay, Hypertrophic cardiomyopathy, Recurrent respiratory inf... ORPHA:17
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Oligohydramnios, Intrauterine growth retardation, Recurrent ... ORPHA:177907
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Growth delay, Severe short stature, Tricuspid regurgitation, Mitral regurgi... ORPHA:2556
Singleton-Merten Syndrome 1
Aortic valve stenosis, Short stature, Pleural effusion, Recurrent respiratory infections, Congest... OMIM:182250
Respiratory distress, Myocarditis, Pericarditis, Pneumonia, Arteritis, Respiratory failure, Conge... ORPHA:533
Campomelic Dysplasia
Respiratory distress, Apnea, Disproportionate short-limb short stature, Neonatal short-limb short... OMIM:114290
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation, Birth length less than 3rd percenti... ORPHA:3404
Meier-Gorlin Syndrome 1
Respiratory distress, Intrauterine growth retardation, Birth length less than 3rd percentile, Emp... OMIM:224690
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Short stature, Oligohydramnios, Intrauterine growth retardation ORPHA:3206
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration, Short stature ORPHA:404448
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Recurrent respiratory infections, Pneumonia ORPHA:37042
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo... OMIM:610655
Isolated Arrhinia
Respiratory distress ORPHA:1134
Arboleda-Tham Syndrome
Respiratory distress, Pulmonic stenosis, Upper eyelid edema, Recurrent aspiration pneumonia, Neon... OMIM:616268
Osteoglophonic Dysplasia
Respiratory distress, Rhizomelia OMIM:166250
Tuberous Sclerosis Complex
Respiratory distress, Internal hemorrhage, Respiratory tract infection, Hypertension, Respiratory... ORPHA:805
Rubinstein-Taybi Syndrome 1
Respiratory distress, Postnatal growth retardation, Short stature, Recurrent upper respiratory tr... OMIM:180849
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Neonatal respiratory distress OMIM:119600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hy... ORPHA:83617
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Central sleep apnea, Recurrent respiratory infections OMIM:615273
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Abnormal pulmonary interstitial morphology, Neonatal ... OMIM:614748
Generalized Arterial Calcification Of Infancy
Respiratory distress, Weak pulse, Hydrops fetalis, Retinal hemorrhage, Polyhydramnios, Edema, Lef... ORPHA:51608
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios, Short stature OMIM:617088
Respiratory distress, Hematemesis, Tachycardia, Arrhythmia, Hypotension, Acute infectious pneumon... ORPHA:707
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonic stenosis, Pulmonary artery stenosis, Oligohydramnios, Intrauterine... ORPHA:2255
Heterotaxy, Visceral, 1, X-Linked
Mitral stenosis, Respiratory distress, Pulmonic stenosis, Polyhydramnios, Total anomalous pulmona... OMIM:306955
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Pulmonary hypoplasia, Recurrent pneumonia ORPHA:798
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Xerostomia, Chronic lung disease, Respiratory failure requiring assisted ve... ORPHA:95455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Short stature, Dela... ORPHA:480880
Doors Syndrome
Aspiration pneumonia, Polyhydramnios, Respiratory distress ORPHA:79500
8Q24.3 Microdeletion Syndrome
Respiratory distress, Short stature, Abnormal lung lobation, Infancy onset short-trunk short stat... ORPHA:508488
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... ORPHA:99646
Angina pectoris, Respiratory distress, Aspiration pneumonia, Intracranial hemorrhage, Lymphedema,... ORPHA:79318
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Abnormal coronary artery... ORPHA:64


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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