Emphysema, Hereditary Pulmonary |
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Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Congenital Lobar Emphysema |
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Respiratory distress, Emphysema |
ORPHA:1928 |
Idiopathic Bronchiectasis |
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Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Bronchopulmonary Dysplasia |
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Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Alpha-1-Antitrypsin Deficiency |
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Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... |
OMIM:613490 |
Allergic Bronchopulmonary Aspergillosis |
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Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension |
ORPHA:1164 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
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Short stature, Emphysema |
OMIM:210050 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema |
OMIM:614100 |
Bare Lymphocyte Syndrome, Type I |
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Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis |
OMIM:604571 |
Birt-Hogg-Dubé Syndrome |
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Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Alpha-1-Antitrypsin Deficiency |
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Emphysema |
ORPHA:60 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema |
ORPHA:171719 |
Sarcoidosis, Susceptibility To, 2 |
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Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... |
OMIM:612387 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Hypophosphatasia |
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Respiratory insufficiency, Short stature, Emphysema |
ORPHA:436 |
Fanconi Renotubular Syndrome 5 |
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Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO |
OMIM:618913 |
Meier-Gorlin Syndrome 4 |
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Intrauterine growth retardation, Short stature, Birth length less than 3rd percentile, Emphysema |
OMIM:613804 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema |
OMIM:242700 |
Immunodeficiency 89 And Autoimmunity |
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Asthma, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Bronch... |
OMIM:619632 |
Netherton Syndrome |
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Asthma, Short stature, Recurrent respiratory infections, Emphysema |
ORPHA:634 |
Hypocomplementemic Urticarial Vasculitis |
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Airway obstruction, Cough, Restrictive ventilatory defect, Emphysema, Pleural effusion, Dyspnea |
ORPHA:36412 |
Congenital Tracheomalacia |
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Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Common Variable Immunodeficiency |
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Recurrent bronchitis, Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Emphysema, Recur... |
ORPHA:1572 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
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Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Cutis Laxa, Autosomal Dominant 1 |
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Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Tracheomalacia, Pulmonary hypoplasia, Emphysema, Growth delay, Pulmonary artery stenosis |
OMIM:613177 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
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Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
Autosomal Recessive Cutis Laxa Type 1 |
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Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... |
ORPHA:90349 |
Loeys-Dietz Syndrome 4 |
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Pneumothorax, Emphysema |
OMIM:614816 |
Lymphangioleiomyomatosis |
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Chylothorax, Cough, Restrictive ventilatory defect, Emphysema, Pneumothorax, Dyspnea, Pulmonary l... |
ORPHA:538 |
Pulmonary Alveolar Proteinosis, Acquired |
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Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... |
OMIM:610910 |
Meier-Gorlin Syndrome 6 |
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Severe short stature, Tracheobronchomalacia, Delayed puberty, Emphysema, Recurrent respiratory in... |
OMIM:616835 |
Sarcoidosis, Susceptibility To, 1 |
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Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal pulmonary inters... |
OMIM:181000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... |
OMIM:265120 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Nocardiosis |
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Respiratory distress, Nonproductive cough, Pneumothorax, Pleuritis, Productive cough, Pneumonia, ... |
ORPHA:31204 |
Immunodeficiency 54 |
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Short stature, Respiratory insufficiency, Respiratory failure, Postnatal growth retardation, Intr... |
OMIM:609981 |
Keutel Syndrome |
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Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Pulmonary artery hypoplasia,... |
OMIM:245150 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Respiratory distress, Intrauterine growth retardation, Postnatal growth retardation, Pulmonary hy... |
OMIM:616733 |
Ellis Van Creveld Syndrome |
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Aplasia/Hypoplasia of the lungs, Neonatal short-limb short stature, Intrauterine growth retardati... |
ORPHA:289 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema |
OMIM:619708 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Intrauterine growth retardation, Short stature, Respiratory insufficiency, Abnormal pulmonary int... |
OMIM:613658 |
Neonatal Marfan Syndrome |
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Neonatal respiratory distress, Hypoxemia, Emphysema |
ORPHA:284979 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Intrauterine growth retardation, Birth length less than 3rd percentile, Emp... |
OMIM:224690 |
Fabry Disease |
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Chronic pulmonary obstruction, Short stature, Respiratory insufficiency, Delayed puberty, Emphyse... |
ORPHA:324 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema |
OMIM:219721 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... |
OMIM:130050 |
Autosomal Dominant Cutis Laxa |
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Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Bronchiectasis, Postnatal growth ... |
ORPHA:90348 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema |
OMIM:614437 |
Sarcoidosis |
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Chylothorax, Abnormal pleura morphology, Cough, Pneumothorax, Upper airway obstruction, Pleural e... |
ORPHA:797 |
Marfan Syndrome |
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Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema |
ORPHA:558 |
Marfan Syndrome |
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Pneumothorax, Pulmonary artery dilatation, Emphysema |
OMIM:154700 |
Familial Isolated Restrictive Cardiomyopathy |
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Pulmonary venous hypertension, Pulmonary edema, Postnatal growth retardation, Orthopnea, Dyspnea,... |
ORPHA:75249 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Respiratory failure, Emphysema, Proportionate short stature, Intrauteri... |
ORPHA:500150 |
Viss Syndrome |
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Asthma, Short stature, Pulmonary artery aneurysm, Emphysema, Pneumothorax, Dyspnea, Pulmonary art... |
OMIM:619472 |
Sotos Syndrome |
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Small cell lung carcinoma, Pulmonary bleb |
ORPHA:821 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Respiratory insufficiency, Intrauterine growth retardation, Short stature |
OMIM:618005 |