Emphysema, Hereditary Pulmonary |
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Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Alpha-1-Antitrypsin Deficiency |
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Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Congenital Lobar Emphysema |
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Respiratory distress, Emphysema |
ORPHA:1928 |
Bronchopulmonary Dysplasia |
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Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Idiopathic Bronchiectasis |
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Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
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Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
Allergic Bronchopulmonary Aspergillosis |
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Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema |
OMIM:614100 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
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Emphysema, Short stature |
OMIM:210050 |
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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Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Bare Lymphocyte Syndrome, Type I |
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Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
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Emphysema |
OMIM:618307 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
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Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... |
OMIM:610921 |
Cutis Laxa, Autosomal Dominant 1 |
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Emphysema |
OMIM:123700 |
Hypophosphatasia |
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Emphysema, Respiratory insufficiency, Short stature |
ORPHA:436 |
Fanconi Renotubular Syndrome 5 |
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Pulmonary fibrosis, Emphysema, Decreased DLCO, Lung adenocarcinoma |
OMIM:618913 |
Immunodeficiency 89 And Autoimmunity |
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Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... |
OMIM:619632 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis |
OMIM:242700 |
Meier-Gorlin Syndrome 4 |
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Birth length less than 3rd percentile, Emphysema, Intrauterine growth retardation, Short stature |
OMIM:613804 |
Netherton Syndrome |
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Recurrent respiratory infections, Emphysema, Asthma, Short stature |
ORPHA:634 |
Hypocomplementemic Urticarial Vasculitis |
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Airway obstruction, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleural effusion |
ORPHA:36412 |
Congenital Tracheomalacia |
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Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
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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Pneumonia, Bronchiectasis, Recurrent bronchitis, Restrictive ventilatory defect, Recurrent respir... |
ORPHA:1572 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
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Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... |
OMIM:614370 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Pulmonary hypoplasia, Growth delay, Emphysema, Pulmonary artery stenosis, Tracheomalacia |
OMIM:613177 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
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Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
Lymphangioleiomyomatosis |
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Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Restrictiv... |
ORPHA:538 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
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Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Autosomal Recessive Cutis Laxa Type 1 |
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Intrauterine growth retardation, Respiratory insufficiency, Peripheral pulmonary artery stenosis,... |
ORPHA:90349 |
Loeys-Dietz Syndrome 4 |
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Pneumothorax, Emphysema |
OMIM:614816 |
Meier-Gorlin Syndrome 6 |
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Tracheobronchomalacia, Severe short stature, Recurrent respiratory infections, Emphysema, Delayed... |
OMIM:616835 |
Sarcoidosis, Susceptibility To, 1 |
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Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... |
OMIM:181000 |
Pulmonary Alveolar Proteinosis, Acquired |
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Hypoxemia, Lung abscess, Pneumonia, Cough, Recurrent respiratory infections, Decreased DLCO, Rest... |
OMIM:610910 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Neonatal respiratory distress, Desquamative interstitial pneumonitis, Tachypnea, Interlobular sep... |
OMIM:265120 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
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Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Nocardiosis |
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Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... |
ORPHA:31204 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia, Postnatal growth ret... |
OMIM:616733 |
Keutel Syndrome |
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Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Chronic sinusitis, Pulmona... |
OMIM:245150 |
Immunodeficiency 54 |
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Intrauterine growth retardation, Respiratory insufficiency, Short stature, Postnatal growth retar... |
OMIM:609981 |
Ellis Van Creveld Syndrome |
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Neonatal short-limb short stature, Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia... |
ORPHA:289 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Intrauterine growth retardation, Respiratory insufficiency, Short stature, Growth delay, Tachypne... |
OMIM:613658 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
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Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Neonatal Marfan Syndrome |
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Hypoxemia, Neonatal respiratory distress, Emphysema |
ORPHA:284979 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia |
OMIM:219721 |
Ehlers-Danlos Syndrome, Vascular Type |
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Short stature, Pneumothorax, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repeated pneum... |
OMIM:130050 |
Fabry Disease |
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Chronic pulmonary obstruction, Respiratory insufficiency, Short stature, Dyspnea, Emphysema, Dela... |
ORPHA:324 |
Autosomal Dominant Cutis Laxa |
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Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Bronchiectasis, Bronchioli... |
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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Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Abnormal lung morphology, Pulmonar... |
ORPHA:797 |
Marfan Syndrome |
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Pulmonary artery dilatation, Emphysema, Spontaneous pneumothorax |
ORPHA:558 |
Marfan Syndrome |
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Pneumothorax, Emphysema, Pulmonary artery dilatation |
OMIM:154700 |
Familial Isolated Restrictive Cardiomyopathy |
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Pulmonary venous hypertension, Pulmonary edema, Recurrent respiratory infections, Orthopnea, Post... |
ORPHA:75249 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Intrauterine growth retardation, Proportionate short stature, Unilateral lung agenesis, Respirato... |
ORPHA:500150 |
Viss Syndrome |
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Pulmonary artery aneurysm, Short stature, Pneumothorax, Pulmonary arterial hypertension, Asthma, ... |
OMIM:619472 |
Sotos Syndrome |
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Pulmonary bleb, Small cell lung carcinoma |
ORPHA:821 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Intrauterine growth retardation, Respiratory insufficiency, Short stature |
OMIM:618005 |