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
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen... OMIM:617300
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Mild postnatal growth ret... OMIM:265300
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Ascites, Pleural effusio... ORPHA:2414
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleu... ORPHA:50251
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce... OMIM:613642
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Facial edema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physiology, Lary... ORPHA:100057
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Pericardial effusion, Bronchiectasis ORPHA:411703
Radio-Renal Syndrome
Severe short stature, Chylothorax, Respiratory distress, Pleural effusion, Dyspnea ORPHA:3015
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Palpitations, Syncope, Dyspnea, Sudden ... OMIM:610476
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary arterial hypertension, Pneumothorax, Dyspnea, Abnormal pul... OMIM:612387
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural effusion OMIM:602248
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Respiratory distress, Shock, Pleural effusion, Tachypnea, Pneumothorax, A... ORPHA:36238
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Respiratory distress, Intrauterine growth retardation, Neonatal death, ... OMIM:619751
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Pericardi... ORPHA:79126
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphysema, Pulmonary ... ORPHA:538
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i... OMIM:619773
Focal Segmental Glomerulosclerosis 1
Ascites, Hypertension, Edema, Pleural effusion OMIM:603278
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Short stature, Polyhydramnios OMIM:300580
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax, Subdural hemorrhage, Cerebral hemorrhage OMIM:620278
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Arrhythmia, ... ORPHA:1041
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, ... ORPHA:70589
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Chylothorax, Congestive heart failure, Lymphedema, Cerebral ischemia, High-output cong... ORPHA:137667
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertroph... OMIM:261740
Succinic Acidemia
Respiratory distress OMIM:600335
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Exertiona... OMIM:178500
Gaucher Disease Type 2
Respiratory distress, Cardiac arrest, Recurrent respiratory infections, Abnormal pattern of respi... ORPHA:77260
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Oligohydramn... OMIM:616733
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Short stature OMIM:615993
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Arrhythmia OMIM:153400
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Recurrent respiratory infections, Hypertrophic cardiomyopathy... ORPHA:75249
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Palpitations, Mitral regurgitation, Left ventricula... OMIM:620236
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Pneumocystosis
Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, Exertional dyspnea, Acute i... ORPHA:723
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Lymphedema, Postnatal growth retardation, Polyhydramnios, Mit... OMIM:613563
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cardiac arrest, Pulmonary edema... ORPHA:70587
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, Pulmonary lymphangiectasia, ... ORPHA:2136
Pulmonary Arteriovenous Malformation
Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic attack, Ischemic st... ORPHA:2038
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Follicular Lymphoma
Pleural effusion, Lymphedema ORPHA:545
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Respiratory distress, Intrauterine growth retardation, Pulmona... ORPHA:70588
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, O... OMIM:613838
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block ORPHA:871
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Dyspnea, Hypertension, Systo... ORPHA:3193
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Pleural effusion ORPHA:3392
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory distr... ORPHA:60032
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Tachy... ORPHA:542323
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis ORPHA:188
Aspergillosis
Pneumonia, Pleural effusion, Hypersensitivity pneumonitis, Dyspnea, Intracranial hemorrhage, Pulm... ORPHA:1163
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... OMIM:115197
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Polyhydramnios, Chylothorax OMIM:619036
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Dyspnea ORPHA:1832
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous o... OMIM:234810
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Respiratory distress, Pleural effusion, Polyhydramnio... ORPHA:292
Congenital Laryngeal Web
Respiratory distress, Short stature ORPHA:2374
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Avian Influenza
Pneumonia, Congestive heart failure, Respiratory distress, Pleural effusion, Tachypnea, Pneumotho... ORPHA:454836
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Abnormality of the pulmonary vasculature,... ORPHA:284227
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Pleural effusion, Mitral regurgitation, Polyhydramnios, Short statur... OMIM:615355
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Pleural effusion, Constrictive pericarditis, Lung abscess, Dyspnea, Ple... ORPHA:67
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Emphysema, Pleural effusion, Dyspnea, Pericardial effusion, Small vessel vas... ORPHA:36412
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Sarcoidosis
Chylothorax, Emphysema, Abnormal pleura morphology, Portal hypertension, Pleural effusion, Joint ... ORPHA:797
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Pleural ef... OMIM:619644
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Telangiectasia, Arrhythmia OMIM:235200
Perching Syndrome
Respiratory distress OMIM:617055
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Pleural effusion, Polyhydr... OMIM:616897
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Tachycardia ORPHA:264675
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Edema ORPHA:2526
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Dyspnea, Hemosiderin... OMIM:616414
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Laryngomalacia
Respiratory distress OMIM:150280
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Joint swelling, Pericarditis ORPHA:85414
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Dyspnea... OMIM:115195
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Short stature, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Pontocerebellar Hypoplasia, Type 13
Recurrent respiratory infections, Pleural effusion, Edema OMIM:618606
Fryns Syndrome
Polyhydramnios, Pulmonary hypoplasia, Chylothorax, Stillbirth OMIM:229850
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Ring Chromosome 22 Syndrome
Growth delay, Edema, Pleural effusion, Lymphedema ORPHA:1446
Scedosporiosis
Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Pleural empyema, Pericarditis ORPHA:449280
Nipah Virus Disease
Respiratory distress, Hypotension, Recurrent pharyngitis ORPHA:99825
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Raynaud phenomenon, Dyspnea, Pericardial effusion, Edema ORPHA:93552
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Pseudo-Torch Syndrome 2
Ascites, Cerebral hemorrhage, Pleural effusion, Bradycardia OMIM:617397
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Growth delay, Hypertrophic cardiomyopathy OMIM:613561
Noonan Syndrome 1
Chylothorax, Lymphedema, Hypertrophic cardiomyopathy, Postnatal growth retardation, Short stature... OMIM:163950
Glycogen Storage Disease Ii
Sinus tachycardia, Pleural effusion, Shortened PR interval, Subarachnoid hemorrhage, Right axis d... OMIM:232300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Inhalational Anthrax
Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage ORPHA:247257
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Arrhythmia, Syncope, Dyspnea, Tachycardia ORPHA:464453
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Polyhydramnios ORPHA:596
Kaposiform Lymphangiomatosis
Epistaxis, Pleural effusion, Dyspnea, Subconjunctival hemorrhage, Epidural hemorrhage, Pericardia... ORPHA:464329
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis ORPHA:846
Chronic Pneumonitis Of Infancy
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions ORPHA:91359
Malaria
Respiratory distress ORPHA:673
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Pneumonia ORPHA:238459
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Respiratory distress, Shock, Palpi... ORPHA:340
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Congestive heart failure, Tricuspid regurgitation, Palpitations, Inc... ORPHA:275766
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Oligohydramnios ORPHA:261304
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Gorham-Stout Disease
Pleural effusion, Edema ORPHA:73
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Orthopnea, Left bundle branch block, Tach... ORPHA:563
Hereditary Angioedema Type 1
Facial edema, Hypotension, Respiratory distress, Tongue edema, Laryngeal edema, Edema of the dors... ORPHA:100050
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Q Fever
Pneumonia, Vasculitis, Respiratory distress, Pleural effusion, Myocarditis, Abnormal pulmonary in... ORPHA:781
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Mild postnatal growth retardation, Pleural effusion, Nonimmune hydrops fetalis, Pulmo... OMIM:235510
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, ... ORPHA:33226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Short stature, Recurrent pneumonia, Pulmonary fibrosis, Pleural effusion OMIM:618935
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Recurrent upper respiratory tract infections, Anasarca, Ascites, Pleural effusion, ... OMIM:618183
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Dyspnea, Atr... OMIM:613873
Myotonic Dystrophy 1
Atrial flutter, Respiratory distress, Polyhydramnios, First degree atrioventricular block, Atrial... OMIM:160900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... ORPHA:244242
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Interlobular septal thickening, Exertional dyspnea, Intraalveolar phospholipid accumulation OMIM:614370
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Intercostal retractions, Righ... ORPHA:1329
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy ORPHA:86812
Mercury Poisoning
Hypotension, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachycardia, Hypertension ORPHA:330021
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pulmo... OMIM:620369
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr... ORPHA:99106
Erdheim-Chester Disease
Congestive heart failure, Pleural effusion, Joint swelling, Dyspnea, Abnormal pulmonary interstit... ORPHA:35687
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy, Mitr... OMIM:212140
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Orthopnea, Pedal edema, Systolic heart murmur, Right ventricula... ORPHA:99103
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Telangiectasia of the ... ORPHA:679
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia ORPHA:254875
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dehydration, Cardiomyopathy ORPHA:79312
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio... OMIM:616564
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Pneumothorax ORPHA:1302
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Cryptococcosis
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea, Ce... ORPHA:1546
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Oligohydramnios ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Respiratory dis... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh... ORPHA:2299
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea, Polyhydramnios ORPHA:2759
Poems Syndrome
Ascites, Pleural effusion, Pulmonary arterial hypertension, Pericardial effusion, Edema ORPHA:2905
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Dilated cardiomyopathy, Respiratory distress, Episodic tachypn... ORPHA:26793
Tetrasomy 5P
Congestive heart failure, Respiratory distress, Postnatal growth retardation, Pulmonary arterial ... ORPHA:3309
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Ascites, Portal hypertens... ORPHA:367
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict... ORPHA:90363
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRCT, Tachypnea, Recurrent respira... OMIM:610978
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation... ORPHA:66529
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis, P... ORPHA:31204
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Isolated Atp Synthase Deficiency
Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Arrhythmia, Short stature ORPHA:254913
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay ORPHA:289916
Sarcoidosis, Susceptibility To, 1
Emphysema, Pericardial effusion, Pleural effusion, Pulmonary arterial hypertension, Dyspnea, Abno... OMIM:181000
Tafro Syndrome
Ascites, Pleural effusion, Anasarca ORPHA:457077
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Short stature, Recurrent respiratory infections, P... OMIM:184260
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Left ventricular diastolic dysfunction OMIM:620375
Scimitar Syndrome
Pulmonary artery hypoplasia, Pulmonary hypoplasia, Bronchogenic cyst, Congestive heart failure, R... ORPHA:185
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Disproportionate short stature, Congestive heart failure, Respi... OMIM:616482
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Growth delay ORPHA:79242
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Short stature, Growth delay OMIM:250940
Tetanus
Respiratory distress, Tachypnea, Bradycardia, Tachycardia, Hypertension ORPHA:3299
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress OMIM:615042
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Growth delay, Bradycardia OMIM:619272
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Generalized edema, Edema, Pleuritis, Respiratory tract infection,... ORPHA:544482
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Respiratory distress, Prolonged QRS complex, Ischemic s... ORPHA:90068
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Growth delay, Third degree atrioventricular block, Anasarca, Ascites, Int... OMIM:619573
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Zygomycosis
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Atelectasis, Pleural eff... ORPHA:73263
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Neonatal short-limb short stature, Respiratory distress, Stillbirth, Polyhydramnios, ... OMIM:151210
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Edema, Abnormal left v... ORPHA:97292
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of hands, Edema of the dorsum of feet ORPHA:544503
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Anasarca, Edema OMIM:254900
Alfadhel Syndrome
Short stature, Nasal flaring OMIM:620655
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary artery dilatation, Right-to-left shunt, Abnormal lung lobation, Alveolar capillary dysp... OMIM:265380
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan... ORPHA:348
Leptospirosis
Hypotension, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degr... ORPHA:509
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Recurrent pneumonia, Congestive heart failure, Respiratory distress, Intrauterine gro... OMIM:616271
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Irregular respiration OMIM:604377
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ascites, Intrauterine growth retardation, Apnea, Neonatal death, Nonimmune ... OMIM:608013
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Pulmonary hypoplasia OMIM:202650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Intrauterine growth retardation, Increased nuchal translucency, Pleural effusion ORPHA:453499
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Fusariosis
Pneumonia, Pleural effusion, Lung abscess, Hypersensitivity pneumonitis, Bronchiectasis ORPHA:228119
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Eisenmenger Syndrome
Elevated jugular venous pressure, Pedal edema, Right ventricular failure, Tricuspid regurgitation... ORPHA:97214
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Respiratory distress, Exudative pleural effusion, Cerebral isch... ORPHA:228123
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Diaphanospondylodysostosis
Respiratory distress, Intrauterine growth retardation, Increased nuchal translucency, Oligohydram... OMIM:608022
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy OMIM:251000
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Respiratory distress, Arrhythmia, Myoca... ORPHA:31824
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory tract infection, Shortened PR inte... ORPHA:308552
Familial Mediterranean Fever
Pleuritis, Pleural effusion, Pericarditis OMIM:249100
Nasolacrimal Duct Cyst
Periorbital edema, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Mogs-Cdg
Generalized edema, Respiratory distress, Apnea, Hypoventilation, Pulmonary edema, Polyhydramnios,... ORPHA:79330
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Edema ORPHA:1054
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Chédiak-Higashi Syndrome
Epistaxis, Pleural effusion, Pericardial effusion, Recurrent respiratory infections, Edema ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Respiratory distre... OMIM:607143
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Lujo Hemorrhagic Fever
Facial edema, Periorbital edema, Hypotension, Generalized edema, Atelectasis, Respiratory distres... ORPHA:319213
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Rodrigues Blindness
Short stature, Nasal flaring OMIM:268320
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections OMIM:211530
Ethylene Glycol Poisoning
Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Episodic respirato... ORPHA:31826
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypotension, Edema, Respiratory distress, Shock, Respiratory tract infection, Tachypne... ORPHA:36234
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Ascites, Nodular... ORPHA:333
Choanal Atresia
Respiratory distress, Recurrent respiratory infections ORPHA:137914
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Tricuspid regurgitation, Intrauterine growth retardation, Persistent fetal ... OMIM:612863
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios ORPHA:329178
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Growth delay ORPHA:2707
Granulomatous Disease, Chronic, X-Linked
Ascites, Recurrent pneumonia, Pleural effusion, Atelectasis OMIM:306400
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Portal hypertension,... ORPHA:171
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Pulmonary arterial hypertension, Exertional dyspnea, Recur... ORPHA:98915
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Respiratory distress, Pulmonary arterial hypertension, Short stature, Abnorm... ORPHA:209905
Brucellosis
Pneumonia, Arteritis, Pulmonary granulomatosis, Bronchitis, Transient ischemic attack, Pleural ef... ORPHA:1304
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Respiratory distress, Ascites, Intrauterine growth retardation, Polyhyd... OMIM:617156
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy,... OMIM:617303
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Chronic Graft Versus Host Disease
Xerostomia, Ascites, Pleural effusion, Pneumothorax, Dyspnea, Bronchiolitis obliterans, Bronchiec... ORPHA:99921
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, Hypertrophic cardiomyopat... ORPHA:3342
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis, Joint swelling OMIM:612852
Moebius Syndrome
Respiratory distress OMIM:157900
Kniest Dysplasia
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature OMIM:156550
Achondroplasia
Rhizomelia, Neonatal short-limb short stature, Respiratory distress, Polyhydramnios, Pulmonary hy... OMIM:100800
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dilated cardiomyopathy, Dehydration OMIM:251110
Kikuchi-Fujimoto Disease
Vasculitis, Abnormal pulmonary interstitial morphology, Pleural effusion, Vasculitis in the skin,... ORPHA:50918
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Pleural effusion, Pulmonary arteriovenous malformation, Pulmonary arter... OMIM:606721
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Atelectasis, Respiratory distress, Hypertrophic cardiomyopathy, Transient ischemic at... ORPHA:365
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Hypertrophic cardiomyopathy OMIM:220110
Multiple Myeloma
Pleural effusion ORPHA:29073
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Respiratory distress, Intrauteri... ORPHA:79282
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Abnormal pleura morphology, Recurrent respirat... ORPHA:537
Congenital Tracheal Stenosis
Fetal ascites, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmonary a... ORPHA:141127
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Respiratory distress, Apnea, Cardiac conduction abnormality, Arr... ORPHA:2131
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Mgat2-Cdg
Respiratory distress, Arrhythmia, Hydrops fetalis, Reflex asystolic syncope, Recurrent upper and ... ORPHA:79329
Osteogenesis Imperfecta, Type X
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia OMIM:613848
Japanese Encephalitis
Abnormal pattern of respiration, Respiratory distress, Pulmonary edema, Irregular respiration, Ce... ORPHA:79139
Sepsis In Premature Infants
Hypotension, Bradycardia, Dyspnea, Tachycardia, Nasal flaring, Edema ORPHA:90051
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Postnatal growth retardation, Oligohydramnios, Repeated pneumo... ORPHA:536467
Congenital Myasthenic Syndrome
Episodic respiratory distress, Polyhydramnios, Apneic episodes precipitated by illness, fatigue, ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Polyhydramnios, Apneic episodes precipitated by illness, fatigue, ... ORPHA:98914
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability ORPHA:206436
Diamond-Blackfan Anemia 10
Respiratory distress, Short stature, Growth delay OMIM:613309
Triosephosphate Isomerase Deficiency
Respiratory distress, Oligohydramnios, Congestive heart failure OMIM:615512
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Hypertrophic cardiomyopa... ORPHA:505248
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Esophageal Atresia
Bronchitis, Respiratory distress, Episodic respiratory distress, Polyhydramnios, Recurrent respir... ORPHA:1199
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Paroxysmal dyspnea,... ORPHA:99125
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy OMIM:217980
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Dehydration, Respiratory distress, Pneumothorax, Bradycardia, ... ORPHA:79404
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Hypertrophic cardiomyopathy, Apnea, Recurrent respiratory infections, Growt... ORPHA:17
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Respiratory distress, Pericardial effusion, Palpitations, ST s... ORPHA:358
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea ORPHA:79241
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Recurrent lower respiratory tract infections, Apnea, Hypopnea OMIM:618426
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Neonatal short-trunk short stature OMIM:183900
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Intrauterine growth retardation, Oligohydramnios, Short stature, Recurrent ... ORPHA:177907
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia, Severe short stature ORPHA:1051
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Apnea, Cardiac conduction abnormality, Episo... ORPHA:255210
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aortic valve stenosis, Pulmonary arterial hypertension ORPHA:210122
Neuroblastoma
Respiratory distress, Hypertension ORPHA:635
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Short stature, Ascites, Growth delay OMIM:256810
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Pneumonia, Interstitial pneumonitis ORPHA:37042
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Shwachman-Diamond Syndrome 1
Respiratory distress, Short stature OMIM:260400
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent sino... OMIM:147060
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Meier-Gorlin Syndrome 1
Respiratory distress, Intrauterine growth retardation, Birth length less than 3rd percentile, Emp... OMIM:224690
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Singleton-Merten Syndrome 1
Aortic valve stenosis, Congestive heart failure, Pleural effusion, Short stature, Recurrent respi... OMIM:182250
Ear-Patella-Short Stature Syndrome
Severe short stature, Respiratory distress, Intrauterine growth retardation, Dyspnea, Growth delay ORPHA:2554
Listeriosis
Pneumonia, Arteritis, Congestive heart failure, Respiratory distress, Myocarditis, Pericarditis ORPHA:533
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, ... ORPHA:2556
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Short stature ORPHA:404448
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Hypertrophic cardio... OMIM:164310
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Oligohydramnios, Birth length less than 3rd p... ORPHA:3404
Stüve-Wiedemann Syndrome
Respiratory distress, Intrauterine growth retardation, Apnea, Oligohydramnios, Short stature ORPHA:3206
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Respiratory distress, Intrauterine growth retardation, Upper eyel... OMIM:616268
Osteoglophonic Dysplasia
Respiratory distress, Rhizomelia, Growth delay, Severe short stature OMIM:166250
Campomelic Dysplasia
Neonatal short-limb short stature, Recurrent upper respiratory tract infections, Disproportionate... OMIM:114290
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Respiratory distress, Mitral stenosis, Bilateral trilobe... OMIM:306955
Tuberous Sclerosis Complex
Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory tract infection, Internal hemor... ORPHA:805
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hy... ORPHA:83617
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Respiratory distress, Postnatal growth retardation,... OMIM:180849
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ascites, Transient ischemic attack, Left ventricular systolic dysfunction, ... ORPHA:51608
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress, Short stature, Moderately short stature OMIM:119600
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Abnormal lung lobation, Res... ORPHA:508488
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intrauterine growth retardation, Oligohydramnios, Pulmonary artery stenosis... ORPHA:2255
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature, Polyhydramnios OMIM:617088
Plague
Hypotension, Respiratory distress, Arrhythmia, Hematemesis, Acute infectious pneumonia, Tachycard... ORPHA:707
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:614748
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring ORPHA:466943
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cardiomyopathy, Respiratory distress, Delayed puberty, Short stature, Recurrent upper and lower r... ORPHA:480880
Doors Syndrome
Respiratory distress, Polyhydramnios, Aspiration pneumonia ORPHA:79500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Pneumonia, Xerostomia ORPHA:95455
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Respiratory distress, Intrauterine growth retardation, Short stature, Growth... ORPHA:99646
Pmm2-Cdg
Anasarca, Aspiration pneumonia, Respiratory distress, Hypertrophic cardiomyopathy, Lymphedema, An... ORPHA:79318
Alström Syndrome
Recurrent pneumonia, Dilated cardiomyopathy, Recurrent upper respiratory tract infections, Conges... 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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter