Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
adrenergic receptor, alpha 2b
Synonyms:
alpha2B,  Adra-2b,  a2b-AR,  [a]2B

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 Adra2b 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.

The table below shows human diseases associated to Adra2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Benign Adult Familial Myoclonic Epilepsy
ORPHA:86814

The table below shows human diseases predicted to be associated to Adra2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Asbestos Intoxication
Wheezing, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Failure to thrive, Cough, Respir... OMIM:263000
Pulmonary Blastoma
Weight loss, Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Rowley-Rosenberg Syndrome
Cor pulmonale, Growth delay, Right ventricular hypertrophy, Pulmonary arterial hypertension, Redu... OMIM:268500
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Respiratory failure, ... OMIM:253300
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Pericardial effusion, Bronchiecta... ORPHA:79126
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Upper airway obstruct... ORPHA:60032
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Weight loss, Hypersen... ORPHA:2902
Ciliary Dyskinesia, Primary, 20
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective cili... OMIM:615067
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... OMIM:610978
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... ORPHA:70588
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Short stature ORPHA:1202
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Right ventricular dilatation, Right ventricular hypertrophy, Pneu... OMIM:253700
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... ORPHA:723
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Ground-glass op... ORPHA:1302
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Small for gestation... OMIM:619057
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... OMIM:610910
Idiopathic Bronchiectasis
Wheezing, Productive cough, Cachexia, Abnormal respiratory system physiology, Crackles, Bronchiec... ORPHA:60033
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Abnormal myocardium morphology, Abnormal pleura morphology, ... ORPHA:2357
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Intrauterine growt... ORPHA:2257
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Failure to thrive, Cough, Left ventricular hypertrophy, Elevated pu... ORPHA:217607
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Failure to thrive, Ground-glass opacification, Cardiome... ORPHA:99931
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... ORPHA:1209
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... ORPHA:90117
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Chronic pulmonary obstruction, Growth delay, Pulmonary arterial hypertension, C... ORPHA:2414
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass ... ORPHA:199241
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Paroxysmal dyspnea, Left atrial enlargement, Right ventricul... ORPHA:563
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Failure to thrive, Ground-glass opacif... OMIM:300770
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Pulmonary artery dilatation, Airway obstruction, Abnormal respiratory sy... ORPHA:99106
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Ground-glass opacification, Cough, Respiratory distress,... ORPHA:91359
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrict... ORPHA:747
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... ORPHA:1164
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea, Recurrent respirato... ORPHA:2004
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Failure to thrive OMIM:616081
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Severe short stature OMIM:302000
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Failure to thrive, Respiratory failure, Respiratory distress, Restrict... OMIM:614399
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Intrauterine growth retardation, Pericardial effusion, Small for gestational age, Tach... ORPHA:555874
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... ORPHA:95430
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Pulmonary arterial hypertension, Exertional dyspnea, Anomalous pulm... ORPHA:99105
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defec... ORPHA:60025
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cya... ORPHA:99104
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Short stature ORPHA:2901
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Idiopathic/Heritable Pulmonary Arterial Hypertension
Dyspnea, Pulmonary arterial hypertension, Right ventricular dilatation ORPHA:422
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due to muscle ... ORPHA:254875
Immunodeficiency 54
Intrauterine growth retardation, Respiratory insufficiency, Short stature, Failure to thrive, Pos... OMIM:609981
Scedosporiosis
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... ORPHA:449280
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Weig... ORPHA:411703
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death, Respiratory insuffic... OMIM:601612
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Pulmonary hypoplasia, Death in infancy, Hypertrophic cardiomyopathy OMIM:614096
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Atrial Septal Defect, Ostium Secundum Type
Right ventricular dilatation, Pneumonia, Abnormal mitral valve morphology, Pulmonary arterial hyp... ORPHA:99103
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Tachypnea, Abnormal ... ORPHA:2041
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... ORPHA:70578
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency, Failure to thrive OMIM:605711
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency, Large for gestational age ORPHA:2432
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal death, Respira... OMIM:228940
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Patent foramen ovale OMIM:616867
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Weight loss, Ground-glass opacification... ORPHA:90060
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Ciliary Dyskinesia, Primary, 23
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... OMIM:615451
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation ORPHA:1832
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Restrictive ventilatory defect, Right ventricular dilatation ORPHA:369847
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Abnor... ORPHA:860
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death OMIM:245650
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight, Jaundice ORPHA:890
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary arteria... OMIM:619003
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Intrauterine growth retardation, Dysplastic tricuspid valve, Growth... OMIM:612863
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respir... ORPHA:264675
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Respiratory insufficiency,... OMIM:614299
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Tracheal Agenesis
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Failure to thrive, Right ventricular hy... ORPHA:444013
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atrial septal defect, Atelectasis ORPHA:896
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... OMIM:244400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory insufficiency, Growth... OMIM:245400
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema OMIM:614100
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Ciliary Dyskinesia, Primary, 30
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... OMIM:616037
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Situs inversus totalis, Cough, Recurrent respirato... OMIM:300991
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema ORPHA:171719
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema OMIM:123700
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Growth delay, Death in infancy OMIM:617248
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency, Severe short stature OMIM:313420
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Failure to thr... ORPHA:79128
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Short stature, Tachypnea, Failure to thrive, Doubl... ORPHA:3426
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Niemann-Pick Disease, Type B
Dyspnea, Recurrent respiratory infections, Short stature, Diffuse reticular or finely nodular inf... OMIM:607616
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Absence Of The Pulmonary Artery
Hypocapnia, Truncus arteriosus, Growth delay, Bronchiectasis, Abnormal heart morphology, Abnormal... ORPHA:980
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Short stat... OMIM:612649
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Respiratory insufficiency, Failure to thrive, Respiratory insufficie... ORPHA:308552
Lymphangioleiomyomatosis
Chylopericardium, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Res... ORPHA:538
Eosinophilia, Familial
Myocardial eosinophilic infiltration, Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Nephronophthisis 2
Respiratory failure, Situs inversus totalis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... OMIM:614874
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular dilatation, Reduced FEV1/FVC ratio, Pulmonary arterial hypertension, Central sl... ORPHA:70591
Complete Atrioventricular Septal Defect
Wheezing, Complete atrioventricular canal defect, Primum atrial septal defect, Crackles, Displace... ORPHA:1329
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Alg9-Cdg
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal lung loba... ORPHA:79328
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Failure to thrive, Aortopulmonary window, Anomalous origin of left pul... ORPHA:99050
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Cardiomy... ORPHA:258
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Obstructive sleep apnea, Failure to thrive, Abnormal heart morpholog... ORPHA:70472
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Recurrent respiratory infections, Cough, Atelectasis ORPHA:2314
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Farber Disease
Respiratory insufficiency, Short stature, Failure to thrive, Respiratory distress, Recurrent uppe... ORPHA:333
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Hypophosphatasia
Failure to thrive in infancy, Emphysema, Respiratory insufficiency, Short stature ORPHA:436
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... ORPHA:1163
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... OMIM:233450
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Bacterial endocarditis, Epistaxis, Pulmonary arterial hypertension, Pu... ORPHA:2038
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Criss-Cross Heart
Ventricular septal defect, Respiratory insufficiency, Tricuspid stenosis, Abnormal mitral valve m... ORPHA:1461
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Respiratory insufficiency, Endocarditis, Wei... ORPHA:183
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Weight loss, Recurrent respiratory infections, Bruising susceptibility ORPHA:3226
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency, Failure to thrive, Respiratory insufficie... ORPHA:365
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Neonatal respiratory distress, Growth delay, Short stature, Failure to... ORPHA:209905
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Dyspnea, Recurrent respiratory infections, Respiratory distress ORPHA:2759
Hyperekplexia 4
Respiratory failure OMIM:618011
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis OMIM:619468
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress, Apnea, Central sleep apnea ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Short stature, Pneumonia, Abnormal heart morphology, Acrocyanosis ORPHA:1867
Ciliary Dyskinesia, Primary, 15
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Hypertrophic cardiomyopathy OMIM:619386
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Intrauterine growth retardation, Small for gestational age, Tachypnea, Failure to thrive, Ventila... OMIM:604320
Riddle Syndrome
Telangiectasia, Pneumonia, Short stature, Weight loss, Chronic sinusitis, Conjunctival telangiect... ORPHA:420741
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Intrauterine growth retardation, Respiratory insufficiency OMIM:615330
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Death in infancy, Intrauterine growth retardation, Growth delay, Abn... ORPHA:1194
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Hypoplasia of right ventricle, Abnormal aortic valve morphology, Total anomalous pu... OMIM:616749
Vacterl Association With Hydrocephalus
Respiratory failure, Abnormal heart morphology, Respiratory insufficiency, Stillbirth OMIM:276950
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Tetrasomy 5P
Failure to thrive, Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Postnatal gro... ORPHA:3309
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration, Failure to thrive OMIM:256000
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Dilated cardiomyo... ORPHA:352447
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Intrauterine growth retardation, Respiratory insufficiency, Neonatal d... OMIM:269860
Truncus Arteriosus
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus, Abnormal lung lob... ORPHA:3384
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Growth delay OMIM:250800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea, Pulmonary edema, Respiratory failure, Pleural effusion ORPHA:542323
Malignant Atrophic Papulosis
Weight loss, Telangiectasia of the skin, Respiratory failure, Abnormal myocardium morphology, Ple... ORPHA:679
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Congenital Tracheal Stenosis
Wheezing, Neonatal asphyxia, Ventricular septal defect, Abnormal lung lobation, Upper airway obst... ORPHA:141127
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Tachypnea, Failure to thrive, Cardiomegaly, Atelectasis OMIM:618278
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Mitral valve prolapse, Pulmonary hypoplasia, Respiratory insufficiency, ... ORPHA:536467
Tularemia
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... ORPHA:3392
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Respiratory f... OMIM:310200
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency, Severe short stature OMIM:156530
Breath-Holding Spells
Cyanosis OMIM:607578
Cystic Echinococcosis
Abnormal heart morphology, Weight loss, Abnormal pulmonary thoracic imaging finding, Urticaria, M... ORPHA:400
Pericardial And Diaphragmatic Defect
Hypoxemia, Bicuspid aortic valve, Neonatal respiratory distress, Abnormal heart morphology, Pulmo... ORPHA:2847
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Cyanosis, Pulmonary edema OMIM:261740
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cardiomegaly, Cyanosis, Atrial septal defect, Right atrial enlargement, Muscular ventr... ORPHA:439
Esophageal Atresia
Failure to thrive in infancy, Chronic pulmonary obstruction, Episodic respiratory distress, Laryn... ORPHA:1199
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Small for gestational age, Perimembranous ventricular septal def... OMIM:618804
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Failure to thrive, Recurrent bronchopulmonary infections, Recurrent pneumonia, Em... OMIM:242700
Legionnaires Disease
Myocarditis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Endocarditi... ORPHA:549
Zygomycosis
Sinusitis, Myocarditis, Pericarditis, Endocarditis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, P... ORPHA:73263
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Short stature, Respiratory failure OMIM:606071
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Nocardiosis
Productive cough, Pericarditis, Pneumonia, Endocarditis, Pneumothorax, Weight loss, Pleuritis, Re... ORPHA:31204
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Failure to thrive OMIM:615838
Geleophysic Dysplasia 3
Short stature, Pneumonia, Sleep apnea, Respiratory failure, Dyspnea OMIM:617809
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Intrauterine growth retardation OMIM:610678
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress, Cyanosis ORPHA:464453
Immunodeficiency 27A
Weight loss, Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia OMIM:209950
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Growth delay, Cardiomyopathy ORPHA:445038
Snakebite Envenomation
Ecchymosis, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory failure ORPHA:449285
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Hypoxemia, Intercostal muscle weakness, Failure to thrive, Hypercapnia, Respirator... ORPHA:2020
Alg1-Cdg
Respiratory failure, Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Angioedema, Cough, Abnormal heart valve morphology, Restrictive ventilatory... ORPHA:36412
Radio-Renal Syndrome
Severe short stature, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylo... ORPHA:3015
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Pneumothorax, Neonatal death, Respiratory distress, Respiratory ... OMIM:266910
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Viss Syndrome
Pulmonary artery aneurysm, Ventricular septal defect, Right ventricular dilatation, Mitral valve ... OMIM:619472
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Growth delay, Short stature, Double outlet right ventricle, Pulmonary art... ORPHA:2326
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis, Small for gestational age ORPHA:621
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Respiratory insufficiency, Small for gestational age, Failure to thrive, ... OMIM:609015
Lujo Hemorrhagic Fever
Ecchymosis, Myocarditis, Crackles, Rhinitis, Respiratory distress, Purpura, Nonproductive cough, ... ORPHA:319213
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Congenital Multicore Myopathy With External Ophthalmoplegia
Severe postnatal growth retardation, Abnormal respiratory system physiology, Pneumonia, Respirato... ORPHA:98905
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Pulmonic stenosis, Cyanosis, Severe failure to thrive, Atrial sept... ORPHA:3304
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom... ORPHA:99125
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Failure to thrive, Mitral atresia, Double outlet right v... OMIM:306955
Bloom Syndrome
Telangiectasia, Chronic pulmonary obstruction, Intrauterine growth retardation, Cutaneous photose... ORPHA:125
Meier-Gorlin Syndrome 4
Intrauterine growth retardation, Short stature, Birth length less than 3rd percentile, Failure to... OMIM:613804
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency, Failure to thrive OMIM:613845
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Death in infancy, Truncus arteriosus, Tricuspid atresia, Cyanosis, Atr... OMIM:617478
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Purpura, Cough, Respiratory insufficiency ORPHA:375
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Subcutaneous hemorrhage, Left ventricular hypertrophy, Cyanosis, B... ORPHA:335
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Small for gestational age, Cyanosis, Abnormal ... ORPHA:90051
Relapsing Polychondritis
Myocarditis, Abnormal endocardium morphology, Pericarditis, Abnormal pattern of respiration, Abno... ORPHA:728
Gaucher Disease, Type I
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... OMIM:230800
Dermatomyositis
Myocarditis, Pericarditis, Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarci... ORPHA:221
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis OMIM:618394
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Failure to thrive, Apnea, Pulmonic stenosis,... ORPHA:70474
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Interstitial pneumonitis, Angioedema, Weight loss, Erythema, Cough, Pulmonary infilt... ORPHA:139402
22Q11.2 Deletion Syndrome
Ventricular septal defect, Chronic pulmonary obstruction, Intrauterine growth retardation, Tricus... ORPHA:567
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Failure to thrive, Respiratory distress, Respiratory failure, Dyspnea ORPHA:2707
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Truncus arteriosus, Tachypnea, Abnormal heart m... ORPHA:2299
Netherton Syndrome
Short stature, Urticaria, Asthma, Recurrent respiratory infections, Emphysema ORPHA:634
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Pulmonary infiltrates, Endocardial fibrosis OMIM:607685
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Short stature ORPHA:1861
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Intrauterine growth retardation, ... OMIM:610505
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Abn... ORPHA:3342
Poems Syndrome
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypert... ORPHA:2905
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth, Growth delay, Short stature OMIM:259720
Common Variable Immunodeficiency
Failure to thrive in infancy, Pneumonia, Recurrent bronchitis, Bronchiectasis, Purpura, Restricti... ORPHA:1572
Scimitar Syndrome
Truncus arteriosus, Mitral atresia, Single ventricle, Abnormal lung morphology, Anomalous pulmona... ORPHA:185
Arnold-Chiari Malformation Type Ii
Cyanosis, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Respiratory insufficiency, Cardiomyopathy, Left ventricular hypertr... ORPHA:746
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode ORPHA:284417
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Apnea, Cyanosis, Atrial septal defect, Tetral... ORPHA:2886
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Pericardial effusion, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Co... OMIM:181000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Intrauterine growth retardation, Respiratory insufficiency, Short stature, Growth delay, Tachypne... OMIM:613658
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea, Abnormal respiratory system physiology ORPHA:803
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Cardiomyopathy, Cyanosis, Respiratory insufficiency ORPHA:159
Fusariosis
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... ORPHA:228119
Buerger Disease
Acrocyanosis ORPHA:36258
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Respiratory insufficiency, Apnea, Cardiomegaly, Respiratory distress, Res... OMIM:608836
Histiocytoid Cardiomyopathy
Ventricular septal defect, Tachypnea, Failure to thrive, Cardiomegaly, Cough, Cyanosis, Pulmonary... ORPHA:137675
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Cardiomegaly, Cardiomyopathy, Fragile skin, Respiratory failure ORPHA:158687
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Cardiorespiratory arrest, Restric... ORPHA:26791
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Interstitial Lung And Liver Disease
Hypoxemia, Respiratory insufficiency, Failure to thrive, Cough, Abnormal pulmonary interstitial m... OMIM:615486
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... ORPHA:79138
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Atrioventricular Septal Defect 3
Primum atrial septal defect, Atrioventricular canal defect, Pulmonary arterial hypertension, Cyan... OMIM:600309
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Cardiomyopathy, Growth delay, Failure to thrive ORPHA:88618
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pulmonary fib... ORPHA:220393
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Short stature, Failure to thrive ORPHA:280210
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Gro... ORPHA:496641
Ethylene Glycol Poisoning
Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis, Pulmonary edema ORPHA:31826
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Double outlet left ventricle, Abnormal left ventricular outflow tract morpholog... ORPHA:216694
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Respiratory insufficiency, Short stature, Failure to thrive, Recurrent respirat... ORPHA:534
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in infancy, Respirator... OMIM:252010
Nijmegen Breakage Syndrome
Cachexia, Cutaneous photosensitivity, Short stature, Recurrent sinopulmonary infections, Recurren... ORPHA:647
Hemorrhagic Fever-Renal Syndrome
Ecchymosis, Pneumonia, Petechiae, Epistaxis, Cough, Respiratory distress, Pulmonary edema, Decrea... ORPHA:340
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay, Failure to thrive OMIM:614407
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618329
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Stridor, Growth delay, Pneumonia, Failure to thrive, Pneumothorax, Respir... ORPHA:79404
Unilateral Polymicrogyria
Abnormal heart morphology, Epistaxis, Apnea, Pulmonary arteriovenous malformation, Cyanosis ORPHA:268943
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Cachexia, Failure to thrive ORPHA:206436
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Growth delay, Recurrent infections due to aspir... OMIM:223900
Niemann-Pick Disease, Type C2
Respiratory failure, Prolonged neonatal jaundice, Respiratory insufficiency OMIM:607625
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Growth delay ORPHA:3240
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Growth delay, Emphysema, Pulmonary artery stenosis, Tracheomalacia, Patent ... OMIM:613177
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Short stature, Recurrent lower respiratory tract infections, Recurrent u... ORPHA:293987
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Short stature, Stillbirth, Postnatal growth retardation, Respiratory f... OMIM:304120
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Respiratory insuff... OMIM:218040
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Growth d... ORPHA:506
Lmna-Related Cardiocutaneous Progeria Syndrome
Mitral valve calcification, Ventricular hypertrophy, Abnormality of the pulmonary artery, Prematu... ORPHA:363618
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Mitral valve prolapse, Pneumothorax, Emphysema, Bruising susceptibility OMIM:614816
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... OMIM:610655
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Aicardi-Goutieres Syndrome 1
Petechiae, Short stature, Erythema, Cardiomyopathy, Acrocyanosis, Purpura, Prolonged neonatal jau... OMIM:225750
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Respiratory insufficiency, Peripheral pulmonary artery stenosis,... ORPHA:90349
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Fingerpad telangiectases, Reduced FEV1/FVC ratio, Spontaneous, recurrent epistaxis, Pu... OMIM:187300
Listeriosis
Myocarditis, Pericarditis, Pneumonia, Endocarditis, Respiratory distress, Respiratory failure, Ja... ORPHA:533
Ellis Van Creveld Syndrome
Dextrocardia, Ventricular septal defect, Aplasia/Hypoplasia of the lungs, Intrauterine growth ret... ORPHA:289
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Neonatal Marfan Syndrome
Hypoxemia, Abnormal cardiac ventricle morphology, Neonatal respiratory distress, Mitral valve pro... ORPHA:284979
Autosomal Recessive Polycystic Kidney Disease
Growth delay, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure... ORPHA:731
Niemann-Pick Disease Type C
Respiratory insufficiency, Pulmonary infiltrates, Abnormal lung morphology, Respiratory failure, ... ORPHA:646
Familial Dysautonomia
Acrocyanosis, Recurrent respiratory infections, Growth delay, Abnormal pleura morphology ORPHA:1764
Granulomatosis With Polyangiitis
Sinusitis, Chronic pulmonary obstruction, Pericarditis, Respiratory insufficiency, Weight loss, P... ORPHA:900
Fabry Disease
Hypertrophic cardiomyopathy, Chronic pulmonary obstruction, Abnormal endocardium morphology, Resp... ORPHA:324
Dravet Syndrome
Cyanotic episode ORPHA:33069
Waldenström Macroglobulinemia
Respiratory insufficiency, Epistaxis, Urticaria, Cutis marmorata, Pulmonary infiltrates, Purpura,... ORPHA:33226
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Erythema, Acrocyanosis, Urticaria, Purpura ORPHA:343
Myhre Syndrome
Ventricular septal defect, Intrauterine growth retardation, Respiratory insufficiency, Short stat... OMIM:139210
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Generalized abnormality of skin, Pulmonary lymphangiomyomatosis, Respiratory... ORPHA:805
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Postnatal growth retardation, Intrauterine growth retardation ORPHA:254528
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Small for gestational age, Failure to thrive, Severe short stature, Recurr... OMIM:616835
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Fucosidosis
Acrocyanosis, Cardiomegaly, Failure to thrive, Vascular skin abnormality ORPHA:349
Ehlers-Danlos Syndrome, Vascular Type
Ecchymosis, Mitral valve prolapse, Short stature, Pneumothorax, Pulmonary bleb, Pulmonary bulla, ... OMIM:130050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infilt... OMIM:606367
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Eisenmenger Syndrome
Wheezing, Hypoxemia, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal de... ORPHA:97214
Short Rib-Polydactyly Syndrome
Intrauterine growth retardation, Situs inversus totalis, Abnormal heart morphology, Disproportion... ORPHA:1505
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Angioedema, Failure to thrive, Myocardial eosinophilic infiltration, Coug... ORPHA:3260
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Growth delay, Failure... ORPHA:2556
Griscelli Syndrome Type 2
Pulmonary infiltrates, Premature graying of hair, Petechiae, Jaundice ORPHA:79477
Ulbright-Hodes Syndrome
Severe intrauterine growth retardation, Birth length less than 3rd percentile, Pneumothorax, Resp... ORPHA:3404
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypertrophic cardiomyopathy, Restrictive ventilatory defect, Ventricular septal defect, Intrauter... ORPHA:96334
Keutel Syndrome
Sinusitis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Recurrent bronchitis,... OMIM:245150
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Pneumonia, Weight loss, Vasculitis in the skin, Cardiom... ORPHA:48435
Poliomyelitis
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:2912
Telangiectasia, Hereditary Hemorrhagic, Type 2
Fingerpad telangiectases, Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Conj... OMIM:600376
Chand Syndrome
Atelectasis ORPHA:1401
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss, Cough, Pulmonary infiltrates ORPHA:77297
Graft Versus Host Disease
Failure to thrive, Pulmonary infiltrates, Pneumonia, Jaundice ORPHA:39812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Hutchinson-Gilford Progeria Syndrome
Mitral valve calcification, Abnormal mitral valve morphology, Abnormal aortic valve morphology, V... ORPHA:740
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Growth delay, Failure to thrive, Severe short stature, Respirato... ORPHA:2554
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates, Jaundice OMIM:246400
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Pitt-Hopkins Syndrome
Growth delay, Abnormal pattern of respiration, Failure to thrive, Acrocyanosis, Postnatal growth ... ORPHA:2896
Abetalipoproteinemia
Respiratory failure, Cardiomegaly, Failure to thrive ORPHA:14
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Abnormal heart morphology, Proport... ORPHA:500150
Sea-Blue Histiocytosis
Pulmonary infiltrates, Petechiae ORPHA:158029
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Cor pulmonale, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia OMIM:219721
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary edema, Pulmonary infilt... ORPHA:90068
Malt Lymphoma
Weight loss, Recurrent respiratory infections, Pulmonary infiltrates ORPHA:52417
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Cutis marmorata, Abnormal pulmonary interstitial morphology, ... ORPHA:289390
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Bronchiectasis, Bronchioli... ORPHA:90348
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Wheezing, Bronchiectasis, Pneumothorax, Weight loss, Erythema, Cough, P... ORPHA:99921
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Respiratory insufficiency, Obstructive sleep apnea, Respiratory insuffici... ORPHA:273
Behçet Disease
Pericarditis, Endocarditis, Weight loss, Pleuritis, Pulmonary infiltrates, Pulmonary embolism, Ab... ORPHA:117
Marfan Syndrome
Cachexia, Pulmonary artery dilatation, Mitral valve prolapse, Mitral valve calcification, Slender... ORPHA:558
Coccidioidomycosis
Pericarditis, Pneumonia, Cough, Pleural empyema, Respiratory distress, Pulmonary infiltrates, Exu... ORPHA:228123
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure, Dyspnea, Intrauterine growth retardation, Severe short stature ORPHA:2636
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata, Cardiomyopathy, Failure to thrive ORPHA:416
Marfan Syndrome
Bicuspid aortic valve, Pulmonary artery dilatation, Mitral valve prolapse, Pneumothorax, Mitral a... OMIM:154700
Generalized Arterial Calcification Of Infancy
Failure to thrive in infancy, Myocardial calcification, Pericardial effusion, Ventricular hypertr... ORPHA:51608
Sarcoidosis
Bronchiectasis, Pneumothorax, Weight loss, Cough, Upper airway obstruction, Pulmonary fibrosis, A... ORPHA:797
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Short stature, Cardiomegaly, Acrocyanosis, Cutis marmorata, Prolonge... ORPHA:51
Autoimmune Lymphoproliferative Syndrome
Urticaria, Bruising susceptibility, Pulmonary fibrosis, Pulmonary infiltrates ORPHA:3261
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Classical Ehlers-Danlos Syndrome
Ecchymosis, Mitral valve prolapse, Tricuspid valve prolapse, Acrocyanosis, Prematurely aged appea... ORPHA:287
Vexas Syndrome
Pulmonary infiltrates OMIM:301054
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight, Short stature OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Carney Triad
Pulmonary infiltrates ORPHA:139411
Benign Adult Familial Myoclonic Epilepsy
ORPHA:86814

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 Adra2b

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 Adra2b.

No publications found that use IMPC mice or data for Adra2b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Adra2btm421524(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Adra2btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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