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Gene: Itga9 MGI:104756

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... ORPHA:2414
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Mild postnatal growth retardation, Nonimmune hydrops fetalis, P... OMIM:265300
Primary Effusion Lymphoma
Pericardial effusion, Dyspnea, Pleural effusion ORPHA:48686
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... OMIM:267450
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Congenital Heart Block
Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Congestive he... ORPHA:60041
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Lymphatic Malformation 6
Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lym... OMIM:616843
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion OMIM:602248
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... OMIM:612387
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough ORPHA:64741
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Ac... ORPHA:36238
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... ORPHA:60032
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Stillbirth, Neon... OMIM:619751
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Short stature, Polyhydramnios, Respiratory insufficiency due to muscle weak... OMIM:300580
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax OMIM:620278
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Atelectasis, Wheezing, Asthma, Hypersensitivity pneumonit... ORPHA:2902
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Arrh... ORPHA:1041
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth retardation, ... OMIM:614702
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonar... ORPHA:70588
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Cardiorespiratory arrest, Pedal edema, Hypotension, Cough,... ORPHA:188
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... ORPHA:137667
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o... ORPHA:77260
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Aspergillosis
Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Hypersensitivity pneumoniti... ORPHA:1163
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Chylothorax, Polyhydramnios OMIM:619036
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia OMIM:153400
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Left axis deviation, Pericardial effusion, Co... OMIM:261740
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, Bronchiolitis OMIM:615993
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Intrauter... OMIM:616733
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... ORPHA:2038
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Hennekam Syndrome
Recurrent respiratory infections, Mild postnatal growth retardation, Lymphedema, Pericardial effu... ORPHA:2136
Follicular Lymphoma
Pleural effusion, Lymphedema ORPHA:545
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Respiratory failure, Reduced left... ORPHA:542323
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Intracranial hemorrhage, Abnormality of... ORPHA:284227
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Short stature, Polyhydramnios, Lymphedema, Postnatal growth retardation, Mitral regurgitation, Ch... OMIM:613563
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... ORPHA:178320
Scedosporiosis
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnorm... OMIM:620233
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Suprav... ORPHA:75249
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion ORPHA:3392
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... ORPHA:2302
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Dyspnea, Angioedema, Small vessel vasculitis, Restrictive ventilatory defec... ORPHA:36412
Meige Disease
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... ORPHA:90186
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Familial Atrial Fibrillation
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations ORPHA:334
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Dyspnea, P... ORPHA:567546
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera... ORPHA:64739
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Noonan Syndrome 8
Short stature, Polyhydramnios, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonic stenos... OMIM:615355
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Perching Syndrome
Respiratory distress OMIM:617055
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops f... ORPHA:292
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, First degree atrioventricular bl... OMIM:115197
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Congestive heart failure, Pleural empyema, Cough, Constrictive pericarditi... ORPHA:67
Monosodium Glutamate Sensitivity
Dyspnea, Palpitations OMIM:231630
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Hemochromatosis, Type 1
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia, Pleural effusion, Ascites OMIM:235200
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Pleural effusion, Pericarditis ORPHA:85414
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Bradycardia,... OMIM:617397
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal edema, Heart m... ORPHA:422
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Sarcoidosis
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... ORPHA:797
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Right bundle branch block, Reduced left ventricula... OMIM:115195
Immunodeficiency 91 And Hyperinflammation
Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Recurrent lower respirato... OMIM:619644
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Severe short stature, Edema, Lymphedema, Chylothorax, Pleural effusion ORPHA:2526
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Intrauterine ... OMIM:616897
Pontocerebellar Hypoplasia, Type 13
Pleural effusion, Asthma, Recurrent respiratory infections, Edema OMIM:618606
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Dyspnea, Left posterior fascicular block, Right bundle branch block, Syncop... OMIM:113900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness, Resp... OMIM:613561
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Short stature, Polyhydramnios, Abnormal p... OMIM:617180
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Ring Chromosome 22 Syndrome
Growth delay, Pleural effusion, Edema, Lymphedema ORPHA:1446
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia, Polyhydramnios OMIM:229850
Solar Urticaria
Edema, Periorbital edema, Dyspnea, Wheezing, Angioedema, Syncope ORPHA:97230
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Dyspnea, Effort-induced polymorphic ventricular... ORPHA:3282
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate... ORPHA:563
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Malaria
Respiratory distress ORPHA:673
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Gorham-Stout Disease
Pleural effusion, Edema, Rhinorrhea ORPHA:73
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Noonan Syndrome 1
Short stature, Lymphedema, Postnatal growth retardation, Chylothorax, Pulmonic stenosis, Hypertro... OMIM:163950
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Restrictive ventilatory defec... ORPHA:210136
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Pediatric Systemic Lupus Erythematosus
Edema, Pericardial effusion, Dyspnea, Raynaud phenomenon, Pleural effusion, Ascites ORPHA:93552
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Primary Intestinal Lymphangiectasia
Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema ORPHA:90362
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Capillary l... ORPHA:340
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough ORPHA:142
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Dyspnea, Abnormal lung morphology, Subconju... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congestive heart failure, Vasculitis, ... ORPHA:33226
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Palpitations, Hypertrophi... OMIM:613873
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Respiratory failu... ORPHA:679
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart failure, Ventricular t... OMIM:612098
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Oligohydramnios ORPHA:261304
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Poems Syndrome
Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventil... ORPHA:2905
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Pericardial effusion, Myocarditis, Vasculitis, Abn... ORPHA:781
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation ORPHA:370924
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Pleural effusion, Recurrent pneumonia, Short stature, Pulmonary fibrosis OMIM:618935
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Peri... OMIM:235510
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Hematochezia,... OMIM:618183
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Hellp Syndrome
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... ORPHA:244242
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation OMIM:615597
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress OMIM:616974
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... OMIM:614299
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... ORPHA:70578
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... ORPHA:31204
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... OMIM:160900
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive ... ORPHA:367
Lymphoproliferative Syndrome 1
Pericardial effusion, Pleural effusion OMIM:613011
Alkuraya-Kucinskas Syndrome
Pericardial effusion, Pleural effusion, Edema OMIM:617822
Erdheim-Chester Disease
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Joint swelling, Pu... ORPHA:35687
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus... ORPHA:1546
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Increased pulmonary vascular resistance, Dy... ORPHA:275766
Carnitine Deficiency, Systemic Primary
Respiratory distress, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation... OMIM:212140
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxe... OMIM:181000
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia ORPHA:1055
Noonan Syndrome 10
Mitral stenosis, Short stature, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitra... OMIM:616564
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... OMIM:609040
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... OMIM:620369
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy, Dehydration ORPHA:79312
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Dyspnea... ORPHA:439
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Respiratory distress ORPHA:289916
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Constrict... ORPHA:99095
Secondary Intestinal Lymphangiectasia
Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ... ORPHA:90363
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substa... ORPHA:2299
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Isolated Atp Synthase Deficiency
Respiratory distress, Short stature, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Congestive heart failure, ... OMIM:616482
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Pneumonia, Episodic tachypnea, Pericard... ORPHA:26793
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, P... ORPHA:363705
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Odontochondrodysplasia
Respiratory distress, Short stature ORPHA:166272
Holocarboxylase Synthetase Deficiency
Growth delay, Tachypnea, Respiratory distress ORPHA:79242
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Polyhydramnios OMIM:300219
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Cocaine Intoxication
Respiratory distress, Prolonged QT interval, Tachycardia, Pulmonary edema, Prolonged QRS complex,... ORPHA:90068
Zygomycosis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, ... ORPHA:73263
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Congestive ... ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory stridor, Irregular... OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Pulmonary arterial hypertension, Bradycardia, Respiratory distress OMIM:619272
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Fusariosis
Sinusitis, Lung abscess, Pneumonia, Productive cough, Hypersensitivity pneumonitis, Bronchiectasi... ORPHA:228119
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Short stature, Mesomelic short stature, P... OMIM:184260
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Anasarca, Edema OMIM:254900
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subc... ORPHA:509
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary artery stenos... OMIM:265380
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Pedal edema, Cardiorespiratory arrest, Cough, Pulmonary ... ORPHA:228116
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Cough ORPHA:1054
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Growth delay, Pulmonary arterial hypertension, Hypertension, Anasarca, Th... OMIM:619573
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... ORPHA:97214
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Disproportionate short-trunk short stature, ... OMIM:608022
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Colchicine Poisoning
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios OMIM:202650
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Edema, Respiratory tract infection, Dyspnea, Myocarditis, Hypertension, Pleural empyem... ORPHA:544482
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal shor... OMIM:151210
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage, Dehydration OMIM:251000
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, ... OMIM:616271
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Crackles, Facial edema, Nonproductive cough, Periorbital edema, Atel... ORPHA:319213
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Neo... OMIM:608013
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Cerebral ischemia ORPHA:927
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Increased nuchal translucency, Intrauterine growth retardation, Pleural effusion ORPHA:453499
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Pancreatitis, Hereditary
Pleural effusion OMIM:167800
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Cough, Pleural effusion, Ascites OMIM:306400
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Pleural empyema, Cerebral i... ORPHA:228123
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Familial Mediterranean Fever
Pleural effusion, Pleuritis, Pericarditis OMIM:249100
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... ORPHA:209905
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Chédiak-Higashi Syndrome
Recurrent respiratory infections, Epistaxis, Edema, Pericardial effusion, Pleural effusion ORPHA:167
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi... ORPHA:980
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Cardiomyopathy, Bradycardia, Pa... OMIM:615745
Mogs-Cdg
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Generalized... ORPHA:79330
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Edema, Respiratory tract infectio... ORPHA:36234
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Growth delay, Intrau... OMIM:612863
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Rhizomelia, Polyhydramnios, Edema, Recurrent upper respiratory tract infect... OMIM:607143
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy OMIM:619383
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Bronchiolitis obliterans, Cough, Ple... ORPHA:99921
Congenital Tracheal Stenosis
Respiratory distress, Fetal ascites, Polyhydramnios, Neonatal asphyxia, Abnormal lung morphology,... ORPHA:141127
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... ORPHA:31826
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hype... OMIM:220110
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Kniest Dysplasia
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature OMIM:156550
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... OMIM:615512
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios ORPHA:329178
Primary Sclerosing Cholangitis
Portal hypertension, Spider hemangioma, Congestive heart failure, Palmar telangiectasia, Pleural ... ORPHA:171
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory tract infection, Atelecta... ORPHA:365
Brucellosis
Pericarditis, Lung abscess, Transient ischemic attack, Pneumonia, Bronchitis, Myocarditis, Pulmon... ORPHA:1304
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Polyhydramnios, Congestive heart failure, Intrauterine growth retardation, ... OMIM:617156
Moebius Syndrome
Respiratory distress OMIM:157900
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Neonatal death OMIM:231680
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Co... OMIM:617303
Sepsis In Premature Infants
Tachycardia, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Achondroplasia
Respiratory distress, Rhizomelia, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia,... OMIM:100800
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:98914
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... ORPHA:537
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Pulmonary fibrosis OMIM:612852
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... ORPHA:1199
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Myocardial infarction OMIM:274150
Kikuchi-Fujimoto Disease
Palpebral edema, Myocarditis, Vasculitis, Abnormal pulmonary interstitial morphology, Vasculitis ... ORPHA:50918
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Multiple Myeloma
Pleural effusion ORPHA:29073
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Abnormal heart rate variability ORPHA:206436
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Abnormal T-wave, Dehydration, Cardio... ORPHA:2131
Osteogenesis Imperfecta, Type X
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Chronic lung disease OMIM:613848
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
Diamond-Blackfan Anemia 10
Growth delay, Short stature, Respiratory distress OMIM:613309
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature OMIM:183900
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Dehydration OMIM:251110
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ce... ORPHA:79139
Mgat2-Cdg
Respiratory distress, Hydrops fetalis, Reflex asystolic syncope, Arrhythmia, Recurrent upper and ... ORPHA:79329
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, Dehydratio... ORPHA:79404
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Short stature OMIM:260400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Dehydration OMIM:251100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Low-to-nor... ORPHA:358
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Episodic respiratory distress, Dilated cardiomyop... ORPHA:255210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay, Hypertrophic cardiom... ORPHA:17
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Xerostomia ORPHA:1051
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Short stature, Intrauterine growth retard... ORPHA:177907
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Growth delay, Ascites, Short stature, Respiratory distress OMIM:256810
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Tracheobronchomalacia... OMIM:114290
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Short stature, Congestive heart failure, Aortic valve stenosis,... OMIM:182250
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Myocarditis, Respiratory... ORPHA:533
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopa... ORPHA:2556
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Interstitial pneumonitis, Pneumonia ORPHA:37042
Stüve-Wiedemann Syndrome
Respiratory distress, Short stature, Apnea, Asthma, Intrauterine growth retardation, Oligohydramnios ORPHA:3206
Meier-Gorlin Syndrome 1
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Respiratory di... OMIM:224690
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Short stature ORPHA:404448
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Upper eyel... OMIM:616268
Osteoglophonic Dysplasia
Growth delay, Severe short stature, Rhizomelia, Respiratory distress OMIM:166250
Isolated Arrhinia
Respiratory distress ORPHA:1134
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Internal he... ORPHA:805
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress OMIM:119600
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory ... ORPHA:83617
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Polyhydramnios, Total anomalous pulmonary venous r... OMIM:306955
Rubinstein-Taybi Syndrome 1
Respiratory distress, Short stature, Polyhydramnios, Postnatal growth retardation, Respiratory tr... OMIM:180849
Generalized Arterial Calcification Of Infancy
Respiratory distress, Transient ischemic attack, Polyhydramnios, Edema, Pericardial effusion, Hyd... ORPHA:51608
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis, Intrauterine growth retardati... ORPHA:2255
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Short... ORPHA:508488
Plague
Respiratory distress, Tachycardia, Edema, Hematemesis, Acute infectious pneumonia, Hypotension, A... ORPHA:707
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature, Polyhydramnios OMIM:617088
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ... ORPHA:95455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Short stature, Cardiomyopathy, Delayed puberty, Recurrent upper and lower r... ORPHA:480880
Doors Syndrome
Respiratory distress, Polyhydramnios, Aspiration pneumonia ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... ORPHA:99646
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracrani... ORPHA:79318
Alström Syndrome
Respiratory distress, Short stature, Portal hypertension, Congestive heart failure, Recurrent upp... 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

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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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