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Gene: Adra2b MGI:87935

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

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 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.

Human diseases associated with Adra2b (1 diseases)
Human diseases predicted to be associated with Adra2b (488 diseases)

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	Matching phenotypes	Source
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Death in childhood, Ventricular septal defect, Atrial septal defect, R...	OMIM:253300
Asbestos Intoxication	Cor pulmonale, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thick...	ORPHA:2302
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Right ventricular hypertrophy, Hyperoxemia, Abnormal lung morphology, Pul...	ORPHA:70589
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Recurrent upper respiratory tract infections, Failure to thrive, Cyanosis, Type II...	OMIM:263000
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in...	OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia, Respir...	ORPHA:70587
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis	OMIM:615872
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauteri...	ORPHA:70588
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Combined Oxidative Phosphorylation Deficiency 51	Severe short stature, Neonatal respiratory distress, Aspiration pneumonia, Intrauterine growth re...	OMIM:619057
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona...	OMIM:610978
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma, Pulmonary infiltrates	ORPHA:64741
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo...	ORPHA:1209
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Failure to thrive,...	OMIM:610913
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Weight...	ORPHA:2902
Larynx Atresia	Short stature, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:1202
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef...	ORPHA:723
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis...	ORPHA:60032
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
C1Q Deficiency 2	Atelectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tract infection...	OMIM:620321
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or...	ORPHA:2032
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor...	ORPHA:2357
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy, Right ventricular dilatation	OMIM:253700
Waardenburg Syndrome Type 3	Acrocyanosis, Atrial septal defect, Atelectasis	ORPHA:896
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Atrial situs ambiguous, Abnormal heart morphology, Ab...	ORPHA:244
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Failure to thrive, Death in childhood, Respiratory insufficiency	OMIM:616081
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Secundum atrial septal defec...	ORPHA:2257
Allergic Bronchopulmonary Aspergillosis	Emphysema, Weight loss, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Situs inversus totalis, Recurrent sinusitis, ...	OMIM:608647
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Acrocyanosis, Death in childhood	OMIM:302000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Right ventricular dilatation, Bronchiectasis	OMIM:619705
Congenital Pulmonary Airway Malformation	Abnormal pleura morphology, Respiratory insufficiency	ORPHA:2444
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass...	ORPHA:99931
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Intrauterine growth retardation, Hypoxemia, Abnormal tricuspid valve a...	ORPHA:555874
Immunodeficiency 54	Failure to thrive, Respiratory insufficiency, Postnatal growth retardation, Intrauterine growth r...	OMIM:609981
Congenital Myopathy 21 With Early Respiratory Failure	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Lipoid pneumonia, Respiratory failure	OMIM:620326
Combined Oxidative Phosphorylation Deficiency 8	Failure to thrive, Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Neonatal de...	OMIM:614096
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia	ORPHA:90117
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic...	OMIM:601612
Idiopathic Acute Eosinophilic Pneumonia	Respiratory insufficiency, Abnormal pleura morphology, Pulmonary infiltrates	ORPHA:724
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira...	OMIM:178550
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res...	ORPHA:60033
Cryptogenic Organizing Pneumonia	Ground-glass opacification, Parenchymal consolidation, Cyanosis, Weight loss, Pneumothorax, Hypox...	ORPHA:1302
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Failure to thrive in infancy, Respiratory insuffi...	ORPHA:254875
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Cyanosis, Growth delay, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak...	ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Cardiomyopathy, Intrauterine growth retardation, Neonatal death, P...	OMIM:619003
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Abnormal heart morphology	OMIM:614100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Atelectasis, Abnormal pulmonary interstitial morphology, Ground-glass opacific...	OMIM:620233
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi...	OMIM:615067
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypoxemia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumot...	ORPHA:36238
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Failure to thrive, Cyanosis, Left atrial enlargement, Left ventricul...	ORPHA:99106
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Hypoxemia, Respirato...	ORPHA:70578
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Obesity, Abnormal cardiac atrium morphology, Left atrial enlargement, Lef...	ORPHA:563
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ...	OMIM:618042
Pierre Robin Syndrome	Cor pulmonale, Neonatal respiratory distress	OMIM:261800
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Cutis Laxa-Marfanoid Syndrome	Emphysema, Abnormal heart valve morphology	ORPHA:171719
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation	OMIM:614022
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary i...	OMIM:612387
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t...	ORPHA:60025
Congenitally Uncorrected Transposition Of The Great Arteries	Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal...	ORPHA:860
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne...	ORPHA:95430
Atrial Septal Defect, Sinus Venosus Type	Right ventricular dilatation, Anomalous pulmonary venous return	ORPHA:99105
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity	ORPHA:330012
Scedosporiosis	Pneumonia, Bronchitis, Respiratory failure, Apical pulmonary opacity, Pulmonary fibrosis, Pleurit...	ORPHA:449280
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Unroofed coronary sinus, Right atrial enlargement, Right ventricular dilatat...	ORPHA:99104
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Weight loss, Hypoxemia	ORPHA:747
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Short stature, Respiratory failure	OMIM:600561
Laryngotracheoesophageal Cleft	Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress	ORPHA:2004
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,...	ORPHA:133
Hepatic Veno-Occlusive Disease	Increased body weight, Jaundice, Respiratory failure	ORPHA:890
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Failure to thrive	ORPHA:91130
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu...	ORPHA:217563
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Hypophosphatasia	Failure to thrive in infancy, Short stature, Emphysema, Respiratory insufficiency	ORPHA:436
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Short stature, Emphysema	OMIM:210050
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615524
Bronchiolitis Obliterans	Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Hyp...	ORPHA:1303
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Atelectasis, Respiratory insufficiency, Death in chil...	OMIM:618278
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Bronchiectasis	OMIM:244400
Neuralgic Amyotrophy	Short stature, Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Ventricular septal defect	OMIM:616277
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Failure to thrive, Respiratory insufficiency, Intrauterine growth ...	OMIM:245400
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency	ORPHA:3346
Nemaline Myopathy 8	Respiratory failure, Death in infancy	OMIM:615348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Heterotaxy, Visceral, 7, Autosomal	Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Mitral atres...	OMIM:616749
Congenital Myopathy 10A, Severe Variant	Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:614399
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Nephronophthisis 2	Respiratory insufficiency, Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Cyanosis, Patent f...	ORPHA:60041
Chromosome 6Q24-Q25 Deletion Syndrome	Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pu...	OMIM:612863
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas...	OMIM:613177
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:611890
Avian Influenza	Pneumonia, Ground-glass opacification, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Hyp...	ORPHA:454836
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Respiratory insufficiency, Intraalveolar phospholipid accumulation, I...	OMIM:614370
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation	ORPHA:422
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro...	OMIM:619611
Perching Syndrome	Cyanosis	OMIM:617055
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Farber Disease	Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis, Respiratory insuffi...	ORPHA:333
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Respiratory insufficiency, Atelectasis, Decreased body weight, Intercostal muscle...	ORPHA:258
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Failure to thrive, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respiratory tract infe...	ORPHA:308552
Lethal Osteosclerotic Bone Dysplasia	Intrauterine growth retardation, Respiratory failure	ORPHA:1832
Lymphoid Interstitial Pneumonia	Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia	OMIM:247610
Spondylometaphyseal Dysplasia, X-Linked	Severe short stature, Respiratory failure, Respiratory insufficiency	OMIM:313420
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Abnormal mitral valve morphology, Right atrial enlargement, Right ventricula...	ORPHA:99103
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin	ORPHA:2314
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Alg9-Cdg	Rhizomelia, Abnormal lung lobation, Abnormal heart morphology, Ventricular septal defect, Atrial ...	ORPHA:79328
Double Outlet Right Ventricle	Hypoplastic left heart, Failure to thrive, Tetralogy of Fallot, Cyanosis, Ventricular septal defe...	ORPHA:3426
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Weight loss, Respiratory failure, Bruising susceptibility	ORPHA:3226
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Cyanosis, Left ven...	ORPHA:444013
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Intrauterine growth retardation, Patent foramen ovale, Ve...	OMIM:269860
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Abnormal heart morphology, Partial diaphragmatic absence of perica...	ORPHA:2847
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Growth delay, Abnormal heart morphology, Short stature, Acrocyanosis	ORPHA:1867
Chronic Pneumonitis Of Infancy	Failure to thrive, Ground-glass opacification, Cyanosis, Diffuse reticular or finely nodular infi...	ORPHA:91359
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Failure to thrive in infancy, Acute infectious pneumonia, Hypoxemia, Respir...	ORPHA:264675
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Failure to thrive, Anomalous origin of right pulmonary artery from ascend...	ORPHA:99050
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Intrauterine growth retardation, Left ventricular hypertrophy, Smal...	OMIM:616733
Surfactant Metabolism Dysfunction, Pulmonary, 4	Ground-glass opacification, Intraalveolar phospholipid accumulation, Failure to thrive	OMIM:300770
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Patent foramen ova...	ORPHA:980
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal heart morphology, Respiratory failure, Failure to thrive, Hypertrophic cardiomyopathy	ORPHA:70472
Criss-Cross Heart	Respiratory insufficiency, Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal ...	ORPHA:1461
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel...	ORPHA:420741
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Double Outlet Left Ventricle	Failure to thrive, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, ...	ORPHA:3427
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Abnormal...	ORPHA:183
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Tetral...	ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy	OMIM:619386
Glycogen Storage Disease Due To Acid Maltase Deficiency	Failure to thrive, Atelectasis, Respiratory insufficiency, Hypertrophic cardiomyopathy, Respirato...	ORPHA:365
Lymphatic Malformation 12	Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren...	OMIM:620014
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Failure to thrive, Patent foramen ovale, Vent...	ORPHA:209905
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Vacterl Association With Hydrocephalus	Abnormal heart morphology, Stillbirth, Respiratory failure, Respiratory insufficiency	OMIM:276950
Hyperekplexia 4	Respiratory failure	OMIM:618011
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Abnormal pulmonary valve morphology...	ORPHA:1194
Diffuse Alveolar Hemorrhage	Ground-glass opacification, Pulmonary infiltrates, Weight loss, Irregular septal thickening on pu...	ORPHA:90060
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o...	OMIM:212093
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Atelectasis, Respiratory insufficiency, Postnatal growth retardation, Mi...	ORPHA:536467
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Malignant Atrophic Papulosis	Abnormal pericardium morphology, Pleural effusion, Weight loss, Abnormal myocardium morphology, T...	ORPHA:679
Pulmonary Non-Tuberculous Mycobacterial Infection	Pleural effusion, Weight loss, Pneumothorax, Pericardial effusion, Bronchiectasis, Pulmonary opacity	ORPHA:411703
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:2759
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Short stature, Jaundice, Growth delay, Respiratory failure	OMIM:250940
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Failure to thrive, Emphysema, Recurrent bronchopulmonary infections, Bronchi...	OMIM:242700
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Respiratory insufficiency, Patent foramen ovale, Decreased body weight, Cardiomegaly...	OMIM:620371
Tetrasomy 5P	Failure to thrive, Postnatal growth retardation, Cyanosis, Recurrent respiratory infections, Pulm...	ORPHA:3309
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency	OMIM:615330
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis...	OMIM:620067
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:3384
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,...	OMIM:614299
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Meckel Syndrome 14	Cardiorespiratory arrest, Cyanosis, Pneumothorax, Single ventricle, Pulmonary hypoplasia	OMIM:619879
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure	ORPHA:542323
Breath-Holding Spells	Cyanosis	OMIM:607578
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Leigh Syndrome, Nuclear	Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:256000
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency	OMIM:618186
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Cyanosis, Delayed puberty, Double outlet rig...	ORPHA:2326
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Severe postnatal growth retardation, Recurrent respiratory infections, Respiratory fai...	ORPHA:98905
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Growth delay, Respiratory failure, Cardiomyopathy	ORPHA:445038
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Small for gestational age	OMIM:312170
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Cyanosis, Death in infancy, Truncus arteriosus, Ventricular septal defect, A...	OMIM:617478
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure	OMIM:605711
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice, Bronchiectasis, Bronchitis	ORPHA:60
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Atelectasis, Ecchymosis	ORPHA:319213
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Sandestig-Stefanova Syndrome	Small for gestational age, Muscular ventricular septal defect, Intrauterine growth retardation, P...	OMIM:618804
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Hereditary Methemoglobinemia	Cyanosis, Small for gestational age	ORPHA:621
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Pl...	ORPHA:2038
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes...	ORPHA:70
Atelosteogenesis, Type Ii	Respiratory insufficiency, Stillbirth, Death in infancy, Pulmonary hypoplasia	OMIM:256050
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Failure to thrive, Intrauterine growth retardation, Ventilator depende...	OMIM:604320
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Alg1-Cdg	Abnormal heart morphology, Respiratory failure, Cardiomyopathy	ORPHA:79327
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Failure to thrive	ORPHA:2254
Achondrogenesis Type 2	Short stature, Cardiorespiratory arrest, Pulmonary hypoplasia	ORPHA:93296
Combined Oxidative Phosphorylation Deficiency 11	Cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory fai...	OMIM:614922
Congenital Fiber-Type Disproportion Myopathy	Cor pulmonale, Failure to thrive, Aspiration pneumonia, Abnormal heart morphology, Weight loss, I...	ORPHA:2020
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Neonatal respiratory distress, Failure to thrive, Death in childhood, Death in infancy, Cyanosis,...	OMIM:618426
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Failure ...	ORPHA:1329
Zygomycosis	Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac...	ORPHA:73263
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Respiratory failure	OMIM:620249
Obesity-Hypoventilation Syndrome	Obesity, Cyanosis	OMIM:257500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Premature graying of hair	OMIM:620365
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
Microphthalmia, Syndromic 9	Severe short stature, Hypoplastic left atrium, Agenesis of pulmonary vessels, Respiratory insuffi...	OMIM:601186
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Meier-Gorlin Syndrome 4	Failure to thrive, Emphysema, Intrauterine growth retardation, Birth length less than 3rd percent...	OMIM:613804
Relapsing Polychondritis	Erythema, Atelectasis, Abnormal aortic valve morphology, Abnormal endocardium morphology, Myocard...	ORPHA:728
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis	OMIM:306400
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Respiratory failure	ORPHA:98913
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Failure to thrive, Death in infancy	OMIM:602473
Combined Oxidative Phosphorylation Deficiency 4	Intrauterine growth retardation, Respiratory failure, Death in infancy	OMIM:610678
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cyanosis, Severe failure to thrive, Overriding aorta, Double outlet right ve...	ORPHA:3304
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Viss Syndrome	Coronary sinus enlargement, Pulmonary artery aneurysm, Failure to thrive, Bruising susceptibility...	OMIM:619472
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Respiratory failure, Ventricular septal defect	OMIM:607598
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa...	OMIM:233450
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Disproportionate short-limb short stature, Respiratory insufficiency, Neona...	OMIM:224410
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Situs inversus totali...	OMIM:615415
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Netherton Syndrome	Short stature, Recurrent respiratory infections, Emphysema, Urticaria	ORPHA:634
Serkal Syndrome	Pulmonic stenosis, Growth delay, Ventricular septal defect, Pulmonary hypoplasia	ORPHA:139466
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Small for gestational age, Failure to thrive, Respiratory insufficiency, ...	OMIM:609015
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Reduced subcutaneous adipose tissue	ORPHA:363400
Metatropic Dysplasia	Severe short stature, Disproportionate short-limb short stature, Respiratory insufficiency, Dispr...	OMIM:156530
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Failure to thrive, Death in childhood	OMIM:615838
Triosephosphate Isomerase Deficiency	Failure to thrive, Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory...	OMIM:615512
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Chylothorax, Respiratory failure, Death in childhood	OMIM:620278
Congenital Tracheal Stenosis	Hypoplastic left heart, Neonatal asphyxia, Abnormal lung lobation, Anomalous origin of left pulmo...	ORPHA:141127
Nocardiosis	Pneumonia, Emphysema, Abnormal heart valve morphology, Pleural effusion, Weight loss, Pneumothora...	ORPHA:31204
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Intrauterine growth retardation, Cyanotic episode	ORPHA:284417
Radio-Renal Syndrome	Severe short stature, Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Chronic Thromboembolic Pulmonary Hypertension	Hypocapnia, Right atrial enlargement, Obesity, Right ventricular dilatation	ORPHA:70591
Snakebite Envenomation	Erythema, Respiratory failure, Angioedema, Ecchymosis	ORPHA:449285
Bloom Syndrome	Pneumonia, Bronchitis, Intrauterine growth retardation, Respiratory tract infection, Cutaneous ph...	ORPHA:125
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia	OMIM:267430
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Pleural effusion, Cyanosi...	OMIM:261740
Scimitar Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Bronchogenic cyst, Abnormal heart morphology...	ORPHA:185
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion	ORPHA:36412
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v...	ORPHA:335
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Congenital alveolar dysplasia, Scimitar anomaly, Dea...	OMIM:608978
22Q11.2 Deletion Syndrome	Failure to thrive, Atelectasis, Abnormal lung lobation, Tetralogy of Fallot, Intrauterine growth ...	ORPHA:567
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Postnatal growth retardation, Intrauterine growth retardation, Mis...	ORPHA:96179
Congenital Myasthenic Syndrome	Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Respiratory arrest, Recurrent respiratory infections, Intermittent episodes of respiratory insuff...	ORPHA:98914
Common Variable Immunodeficiency	Pneumonia, Failure to thrive in infancy, Emphysema, Recurrent bronchitis, Recurrent respiratory i...	ORPHA:1572
Esophageal Atresia	Bronchitis, Failure to thrive in infancy, Tetralogy of Fallot, Cyanosis, Ventricular septal defec...	ORPHA:1199
Geleophysic Dysplasia 3	Short stature, Pneumonia, Respiratory failure	OMIM:617809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure	OMIM:606612
Chand Syndrome	Atelectasis	ORPHA:1401
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Respiratory failure, Small for gestational age, Death in childhood	OMIM:619847
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Cardiorespiratory arrest, Hypertrophic cardiomyopathy, Pulmonary artery s...	ORPHA:3342
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Rhizomelia, Disproportionate short stature, Neonatal death, Palmoplantar cu...	OMIM:616482
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Respiratory failure, Cardiomyopathy, Respiratory insufficiency due to mus...	OMIM:310200
Thanatophoric Dysplasia, Type I	Neonatal respiratory distress, Disproportionate short-limb short stature, Lethal short-limbed sho...	OMIM:187600
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Rajab Interstitial Lung Disease With Brain Calcifications 1	Failure to thrive, Respiratory insufficiency, Emphysema, Slender build, Intrauterine growth retar...	OMIM:613658
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis, Failure to thrive	ORPHA:51188
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Atelectasis, Respiratory insufficiency, Death in infancy, Delayed puberty, Sho...	ORPHA:534
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Growth delay, Respiratory failure, Respiratory failure requiring assisted ve...	ORPHA:496641
Poems Syndrome	Pleural effusion, Plethora, Weight loss, Respiratory insufficiency due to muscle weakness, Perica...	ORPHA:2905
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Failure to thrive, Hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficiency due...	OMIM:220110
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Cystic Echinococcosis	Pulmonary cyst, Abnormal heart morphology, Abnormal subpleural morphology, Multiple pulmonary cys...	ORPHA:400
Tarp Syndrome	Failure to thrive, Tetralogy of Fallot, Intrauterine growth retardation, Cyanosis, Atrial septal ...	ORPHA:2886
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Respiratory failure	ORPHA:1861
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Hereditary Motor And Sensory Neuropathy, Type Iic	Short stature, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Growth delay, Failure to thrive	OMIM:614407
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Fragile skin, Respiratory failure	ORPHA:158687
Neonatal Marfan Syndrome	Abnormal cardiac ventricle morphology, Neonatal respiratory distress, Emphysema, Mitral valve pro...	ORPHA:284979
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi...	OMIM:611812
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Respiratory insufficiency, Emphysema, ...	ORPHA:90349
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Intrau...	OMIM:610505
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:613845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency, Death in infanc...	OMIM:608836
Aortic Arch Interruption	Abnormal heart morphology, Cyanosis, Ventricular septal defect, Truncus arteriosus, Bicuspid aort...	ORPHA:2299
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Respiratory failure, Atrial septal defect, Patent foramen ovale	OMIM:620327
Boutonneuse Fever	Petechiae, Respiratory failure	ORPHA:83313
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Respiratory failure, Hypercapnia, Respiratory failure req...	ORPHA:79138
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Secundum atrial septal defect, Cardiomyopathy, Patent foramen oval...	OMIM:616866
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Respiratory insufficiency, Failure to thrive in infancy, Left ventricular hypertr...	ORPHA:746
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Growth delay, Failure to thrive, Cardiomyopathy	ORPHA:88618
Nijmegen Breakage Syndrome	Recurrent pneumonia, Cachexia, Recurrent sinopulmonary infections, Short stature, Recurrent respi...	ORPHA:647
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:994
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Transposition of the great arteries, Dextrocardia,...	OMIM:314390
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Premature graying of hair, Emphysema, Premature s...	ORPHA:363618
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Respiratory failure, Failure to thrive	ORPHA:280210
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Histiocytoid Cardiomyopathy	Failure to thrive, Cyanosis, Ventricular septal defect, Pulmonary edema, Cardiomegaly	ORPHA:137675
Ellis Van Creveld Syndrome	Neonatal short-limb short stature, Failure to thrive, Emphysema, Atrioventricular canal defect, I...	ORPHA:289
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Cardiomyopathy, Respiratory insufficiency	ORPHA:159
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Cyanosis	OMIM:250800
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure, Growth delay, Failure to thrive	ORPHA:2707
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect...	OMIM:219100
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure	OMIM:618233
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Mitochondrial Complex I Deficiency, Nuclear Type 1	Failure to thrive, Respiratory insufficiency, Hypertrophic cardiomyopathy, Concentric hypertrophi...	OMIM:252010
Sarcoidosis, Susceptibility To, 1	Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Weight loss, Pericardial effusion,...	OMIM:181000
Combined Oxidative Phosphorylation Deficiency 37	Hypertrophic cardiomyopathy, Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:618329
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Familial Dysautonomia	Acrocyanosis, Abnormal pleura morphology, Growth delay, Recurrent respiratory infections	ORPHA:1764
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal heart morphology, Cardiorespiratory arrest, Respiratory failure, Cardiomyopathy	ORPHA:26791
Dermatomyositis	Erythema, Shawl sign, V-sign, Respiratory insufficiency, Acrocyanosis, Lung adenocarcinoma, Diffu...	ORPHA:221
Dyssegmental Dysplasia, Silverman-Handmaker Type	Severe short stature, Pulmonary hypoplasia, Respiratory insufficiency, Abnormal heart morphology,...	ORPHA:1865
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Growth delay, ...	OMIM:617248
Matthew-Wood Syndrome	Abnormal lung morphology, Intrauterine growth retardation, Failure to thrive, Pulmonary hypoplasia	ORPHA:2470
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Eosinophilic Fasciitis	Weight loss, Acrocyanosis	ORPHA:3165
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Listeriosis	Pneumonia, Miscarriage, Myocarditis, Jaundice, Endocarditis, Respiratory failure, Pericarditis	ORPHA:533
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Tetralogy of Fallot, Obesity, Recurrent sinusitis, Ventricular ...	OMIM:188400
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis, Small for gestational age	ORPHA:391673
Infantile Krabbe Disease	Cachexia, Respiratory failure, Failure to thrive	ORPHA:206436
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Aicardi-Goutieres Syndrome 1	Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Short stature, Acrocyanosis, Pu...	OMIM:225750
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dilated cardiomyopathy, Failure to thrive, Pneumothorax, Fragile skin, Growth delay, R...	ORPHA:79404
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Small for gestational age, Failure to thrive, Death in childhood	OMIM:618252
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia	OMIM:202650
Fabry Disease	Respiratory insufficiency, Emphysema, Hypertrophic cardiomyopathy, Angiokeratoma, Abnormal aortic...	ORPHA:324
Sepsis In Premature Infants	Petechiae, Cyanosis, Decreased body weight, Jaundice, Purpura, Small for gestational age	ORPHA:90051
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Ventricular septal defect, Failure to thrive, Pulmonary hypoplasia	OMIM:615503
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:253290
Costello Syndrome	Failure to thrive, Respiratory insufficiency, Hypertrophic cardiomyopathy, Mitral valve prolapse,...	OMIM:218040
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Growth delay	OMIM:223900
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Petechiae, Decreased body weight, Pulmonary edema, Ecchymosis, Respi...	ORPHA:340
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Combin...	OMIM:130050
Joubert Syndrome 21	Respiratory failure, Pulmonary hypoplasia	OMIM:615636
Leigh Syndrome	Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular sept...	ORPHA:506
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood	OMIM:617186
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Growth delay, Respiratory failure	ORPHA:3240
Unilateral Polymicrogyria	Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Fucosidosis	Cardiomegaly, Acrocyanosis, Failure to thrive, Vascular skin abnormality	ORPHA:349
Amyotrophic Lateral Sclerosis	Cachexia, Respiratory failure	ORPHA:803
Loeys-Dietz Syndrome 4	Bruising susceptibility, Emphysema, Mitral valve prolapse, Bicuspid aortic valve, Pneumothorax	OMIM:614816
Meier-Gorlin Syndrome 6	Severe short stature, Failure to thrive, Emphysema, Delayed puberty, Recurrent respiratory infect...	OMIM:616835
Ethylene Glycol Poisoning	Pulmonary edema, Cyanosis	ORPHA:31826
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Cyanosis	ORPHA:488627
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Growth delay, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Jaundice, Abnormal lung m...	ORPHA:646
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Recurrent pneumonia, Jaundice, Growth delay, Respiratory failure, Pulmo...	ORPHA:731
Tuberous Sclerosis Complex	Generalized abnormality of skin, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Respiratory...	ORPHA:805
Osteopetrosis, Autosomal Recessive 5	Short stature, Growth delay, Respiratory failure, Stillbirth	OMIM:259720
Myhre Syndrome	Aortic valve stenosis, Respiratory insufficiency, Intrauterine growth retardation, Obesity, Ventr...	OMIM:139210
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure	ORPHA:254528
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine growth retardation, Large...	ORPHA:96334
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Overriding aorta, Pulmo...	OMIM:617022
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis	OMIM:261680
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis, Respiratory failure requiring assisted ventilation	OMIM:620423
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Obesity, Cyanosis, Delaye...	ORPHA:293987
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Palpable purpura, Cardiomyopathy, Cutis marmorata, Weight loss...	ORPHA:48435
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Respiratory insufficiency, Death in infancy, Short stature, Jaundice, Recurrent respiratory infec...	OMIM:208500
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
Mosaic Trisomy 16	Abnormal heart morphology, Intrauterine growth retardation, Ventricular septal defect, Atrial sep...	ORPHA:1708
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis	OMIM:619580
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Nasal mucosa telangiectasia...	OMIM:187300
Ulbright-Hodes Syndrome	Postnatal growth retardation, Birth length less than 3rd percentile, Pneumothorax, Severe intraut...	ORPHA:3404
Pentalogy Of Cantrell	Tetralogy of Fallot, Abnormal pericardium morphology, Ventricular septal defect, Atrial septal de...	ORPHA:1335
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wrinkling, Emphysema, Postnat...	ORPHA:90348
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Pulmonary arteriovenous malformatio...	OMIM:610655
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure	OMIM:617301
Poliomyelitis	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:2912
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Erythema, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyo...	ORPHA:2556
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Emphysema, Intrauterine growth retardation, Abnormal heart morpholo...	ORPHA:500150
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Respiratory insufficiency	OMIM:617239
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Fibrocystic lung disease, Cor pulmonale	OMIM:158310
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Stillbirth, Abnormal cardiac septum morphology, Single ventricle, Short stature, Mild i...	OMIM:308050
Meier-Gorlin Syndrome 1	Failure to thrive, Emphysema, Intrauterine growth retardation, Death in infancy, Birth length les...	OMIM:224690
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormality of the p...	ORPHA:991
Oligomeganephronia	Secundum atrial septal defect, Small for gestational age, Pulmonary venous occlusion, Pulmonary h...	ORPHA:2260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Abetalipoproteinemia	Cardiomegaly, Respiratory failure, Failure to thrive	ORPHA:14
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Respiratory failure, Atrial septal defect, Death in infancy	OMIM:300868
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de...	ORPHA:97214
Renal Agenesis	Ventricular septal defect, Pulmonary hypoplasia	ORPHA:411709
Thoracoabdominal Syndrome	Transposition of the great arteries, Ectopia cordis, Pulmonary hypoplasia	OMIM:313850
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Generalized abnormali...	ORPHA:740
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Situs inversus totalis, Neonatal death, Atrial septal defect, Pulmonary hy...	OMIM:208540
Ear-Patella-Short Stature Syndrome	Severe short stature, Failure to thrive, Intrauterine growth retardation, Growth delay, Respirato...	ORPHA:2554
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Failure to thrive, Congenital defect of the pericardium, Tetralogy o...	ORPHA:2255
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Neonatal respiratory distress, Ventricular septal defect, Aortopulmo...	OMIM:620025
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent pneumonia, Recurrent sinusitis, Bronchiolitis obliterans, Recurrent lowe...	OMIM:300755
Marfan Syndrome	Mitral annular calcification, Pulmonary artery dilatation, Emphysema, Reduced subcutaneous adipos...	OMIM:154700
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender build, Mitral valve pro...	ORPHA:558
Cystic Fibrosis	Cor pulmonale, Recurrent pneumonia, Failure to thrive, Recurrent bronchopulmonary infections, Bro...	OMIM:219700
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Steinert Myotonic Dystrophy	Dilated cardiomyopathy, Respiratory insufficiency, Respiratory insufficiency due to muscle weakne...	ORPHA:273
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Pulmonary hypoplasia	OMIM:619351
Pitt-Hopkins Syndrome	Postnatal growth retardation, Acrocyanosis, Growth delay, Failure to thrive	ORPHA:2896
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis, Failure to thrive, Cardiomyopathy	ORPHA:416
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Postnatal growth retardation, Atrial septal defect, Stillbirth, Short ...	OMIM:304120
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Weight loss, Pneumothorax, ...	ORPHA:797
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Cutis marmorata, Cardiomegaly, Prolonged neonatal jaundice, Short st...	ORPHA:51
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Intrauterine growth retardation, Respiratory failure	ORPHA:2636
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Failure to thrive in infancy, Cyanosis, Cardiomegaly, Pericardial effusi...	ORPHA:51608
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Mitral valve prolapse, Ecchymosis, Tricuspid valve p...	ORPHA:287
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Vascular skin abnormality, Abnormal lung lobation, Abnormal su...	ORPHA:744
Coffin-Lowry Syndrome	Short stature, Cutis marmorata, Acrocyanosis, Decreased body weight	OMIM:303600
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Abnormal right ventricle morphology, Mitral valve prolapse, Ventricula...	ORPHA:500095
Sotos Syndrome	Small cell lung carcinoma, Abnormal heart morphology, Ventricular septal defect, Atrial septal de...	ORPHA:821
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Bruising susceptibility, Mitral valve prolapse	ORPHA:285
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

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

MGI Allele	Allele Type	Produced
Adra2b^{tm421524(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Adra2b^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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