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Gene: Adra2b MGI:87935

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Respiratory insufficiency, Respirato... OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Cough, Atrial septal defect, Oxygen desaturation on ex... OMIM:610978
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Small for gestational age, Growth delay, Res... OMIM:619057
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Tricuspid Atresia
Atrial septal defect, Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transpo... ORPHA:1209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Pneumonia, Right ventricular hypert... OMIM:253700
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, S... ORPHA:2257
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Atrial situs ambiguous, Abnorm... ORPHA:244
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crackles, Dyspnea, ... ORPHA:99931
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Growth delay, Pu... ORPHA:2414
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Peripartum Cardiomyopathy
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... ORPHA:563
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Failure to thrive, Respiratory insufficiency, Death in childhood OMIM:616081
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal... ORPHA:99106
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... ORPHA:724
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis OMIM:619705
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Cardiome... ORPHA:555874
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Atrial Septal Defect, Sinus Venosus Type
Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul... ORPHA:99105
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... ORPHA:99104
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Immunodeficiency 54
Recurrent respiratory infections, Short stature, Postnatal growth retardation, Respiratory insuff... OMIM:609981
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent foramen ovale, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology, Respiratory insuffic... OMIM:601612
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension ORPHA:422
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... OMIM:244400
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Pulmonary hypoplasia, Death in childhood, Neonatal death, Hypertr... OMIM:614096
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... OMIM:178550
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement OMIM:614022
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar... OMIM:619003
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy OMIM:616277
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect ORPHA:369847
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular dilata... OMIM:612863
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... ORPHA:444013
Hepatic Veno-Occlusive Disease
Jaundice, Increased body weight, Respiratory failure ORPHA:890
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Endocardial fibroelastosis, Intrauterine growth retarda... ORPHA:60041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, ... OMIM:618278
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira... OMIM:245400
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Growth delay, Pu... OMIM:613177
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... OMIM:618042
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation, Restrictive ventilatory defect ORPHA:369840
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Pul... ORPHA:258
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea OMIM:618414
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... ORPHA:308552
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death OMIM:611890
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Respiratory insufficiency ORPHA:3346
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Double Outlet Right Ventricle
Failure to thrive, Cyanosis, Ventricular septal defect, Short stature, Tachypnea, Double outlet r... ORPHA:3426
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... ORPHA:980
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up... ORPHA:333
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Cyanosis, Ventricular septal defect, Fail... ORPHA:99050
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Chylopericardium, Pulmonary... ORPHA:538
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Alg9-Cdg
Ventricular septal defect, Rhizomelia, Pericardial effusion, Asthma, Abnormal lung lobation, Abno... ORPHA:79328
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Severe short stature, Respiratory insufficiency OMIM:313420
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atri... OMIM:616749
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Failure to thrive, Cardiomegal... ORPHA:3427
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia OMIM:615524
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Cardiomegaly, Respiratory tract infection, Atelectasis, Respirat... ORPHA:365
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Bacterial e... ORPHA:2038
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility, Weight loss ORPHA:3226
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal... OMIM:269860
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Hereditary Bullous Dystrophy, Macular Type
Short stature, Pneumonia, Abnormal heart morphology, Growth delay, Acrocyanosis ORPHA:1867
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... OMIM:233450
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morphology, Abnormal p... ORPHA:183
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Obesity, Rig... ORPHA:70591
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Riddle Syndrome
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent p... ORPHA:420741
Hypophosphatasia
Emphysema, Short stature, Failure to thrive in infancy, Respiratory insufficiency ORPHA:436
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Myocarditis, Atelectasis, Nonproductive cough, Rhinitis, Ecchymos... ORPHA:319213
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... ORPHA:3309
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Failure to thrive, Respiratory failure, Abnormal heart morphology ORPHA:70472
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Hyperekplexia 4
Respiratory failure OMIM:618011
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Atelectasis, Myocarditis, Erythema, Dyspnea, Abnor... ORPHA:728
Truncus Arteriosus
Atrial septal defect, Cyanosis, Ventricular septal defect, Anomalous origin of one pulmonary arte... ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Tachypnea, Respiratory failure, Intrauterine growth retardation, Failu... OMIM:604320
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Growth delay, Respiratory failure, Abnorma... ORPHA:1194
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency, Abnormal heart morphology OMIM:276950
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... OMIM:312170
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Respiratory insufficiency OMIM:615330
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Neonatal asphyxia, Abnormal lung morph... ORPHA:141127
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Failure to thrive, Congenital laryngeal stridor ORPHA:2254
Leigh Syndrome
Respiratory failure, Failure to thrive, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Breath-Holding Spells
Cyanosis OMIM:607578
Intermediate Nemaline Myopathy
Cardiomyopathy, Respiratory failure ORPHA:171433
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn... ORPHA:98905
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Weight loss, Respiratory failure, Ab... ORPHA:679
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Smal... ORPHA:1199
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Abnormal heart morphology, Hypoxemia, Pulmo... ORPHA:2847
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency OMIM:618186
Zygomycosis
Pericarditis, Sinusitis, Epistaxis, Atelectasis, Myocarditis, Pneumothorax, Endocarditis, Pulmona... ORPHA:73263
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Cardiac Valvular Dysplasia 1
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... OMIM:212093
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... ORPHA:439
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Single ventricle OMIM:619879
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Pulmonar... OMIM:620067
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dilated cardiomyo... ORPHA:352447
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Dilated cardiomyopathy, Growth delay, Pulmonary artery hypoplasia, Delay... ORPHA:2326
Tibial Muscular Dystrophy
Cardiomyopathy, Respiratory failure ORPHA:609
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
3-Methylglutaconic Aciduria Type 7
Growth delay, Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Sandestig-Stefanova Syndrome
Small for gestational age, Muscular ventricular septal defect, Respiratory failure, Perimembranou... OMIM:618804
Congenital Myopathy 10B, Mild Variant
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia OMIM:620249
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Cardiomyopathy, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... OMIM:614922
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial anomalous pulmonary venous return,... OMIM:617478
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Alg1-Cdg
Cardiomyopathy, Respiratory failure, Abnormal heart morphology ORPHA:79327
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Viss Syndrome
Atrial septal defect, Prominent superficial blood vessels, Failure to thrive, Ventricular septal ... OMIM:619472
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Failure to thrive, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis ORPHA:449285
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Severe failure to thrive, Pulmonic stenosis, Atrial septal defect, Do... ORPHA:3304
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... OMIM:261740
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Intrauterine growth retardation OMIM:610678
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae OMIM:602473
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Congenital Fibrinogen Deficiency
Cyanosis, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemorrhage, Right v... ORPHA:335
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Metatropic Dysplasia
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... OMIM:156530
Bloom Syndrome
Small for gestational age, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary ... ORPHA:125
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Cardio... OMIM:310200
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... OMIM:242700
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Dilated cardiomyopathy, Respiratory insufficiency, Respiratory failure... OMIM:609015
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
22Q11.2 Deletion Syndrome
Failure to thrive, Ventricular septal defect, Abnormal pulmonary valve morphology, Short stature,... ORPHA:567
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Aortic Arch Interruption
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... ORPHA:2299
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure OMIM:606612
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Restrictiv... ORPHA:36412
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Short stature, Pneumonia OMIM:617809
Scimitar Syndrome
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... ORPHA:185
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation OMIM:603689
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Ventricular septal defect, Poor wound healing, Progeroid facial appe... OMIM:123700
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... ORPHA:221
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... ORPHA:90051
Microphthalmia, Syndromic 9
Atrial septal defect, Severe short stature, Ventricular septal defect, Short stature, Agenesis of... OMIM:601186
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Myocarditis, Pulmo... ORPHA:3342
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Short stature, Intercostal muscle weakness OMIM:606071
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Pulmonary hypoplasia, Atrial septal defect, Intrauterine grow... ORPHA:2886
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Respiratory failure, Short stature, Death in childhood OMIM:619847
Rajab Interstitial Lung Disease With Brain Calcifications 1
Short stature, Small for gestational age, Tachypnea, Abnormal pulmonary interstitial morphology, ... OMIM:613658
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis OMIM:620365
Poems Syndrome
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ... ORPHA:2905
Meier-Gorlin Syndrome 4
Short stature, Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema,... OMIM:613804
Buerger Disease
Acrocyanosis ORPHA:36258
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Chand Syndrome
Atelectasis ORPHA:1401
Netherton Syndrome
Recurrent respiratory infections, Short stature, Asthma, Urticaria, Emphysema ORPHA:634
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Cough, Failure to thrive, Pulmonary... ORPHA:137675
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency OMIM:613845
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Growth delay, Respiratory failure, Neonatal death, R... OMIM:617248
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Short stature, Atelectasis, Respiratory insuf... ORPHA:534
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Cardiomegaly, Dilated cardiomyopathy, Res... OMIM:608836
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Failure to thrive, Acrocyanosis OMIM:614407
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Short stature ORPHA:1861
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respir... OMIM:610505
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Lef... ORPHA:746
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Growth delay, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent ... ORPHA:496641
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Cardiorespiratory arrest, Abnormal heart morphology, Cardiomyopathy, Restrictive ventila... ORPHA:26791
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Respiratory failure, Intrauterine growth retardation, Fragile skin ORPHA:158687
Meacham Syndrome
Atrial septal defect, Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
S-Adenosylhomocysteine Hydrolase Deficiency
Growth delay, Cardiomyopathy, Respiratory failure, Failure to thrive ORPHA:88618
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Intrauterine growth retardation, Respiratory failure, Patent foramen ovale OMIM:620327
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Failure to thrive, Short stature ORPHA:280210
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Digeorge Syndrome
Ventricular septal defect, Short stature, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmo... OMIM:188400
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... OMIM:252010
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Short stature, Cachexia, Re... ORPHA:647
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:181000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Growth ... OMIM:223900
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Growth d... ORPHA:79404
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Endocarditis, ... ORPHA:533
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Dravet Syndrome
Cyanotic episode ORPHA:33069
Familial Dysautonomia
Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Aicardi-Goutieres Syndrome 1
Short stature, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Pu... OMIM:225750
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Leigh Syndrome
Ventricular septal defect, Growth delay, Respiratory failure, Intrauterine growth retardation, Hy... ORPHA:506
Costello Syndrome
Ventricular septal defect, Short stature, Tracheomalacia, Pneumothorax, Respiratory insufficiency... OMIM:218040
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Failure to thrive, Small for gestational age, Death in childhood OMIM:618252
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir... ORPHA:293987
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Fucosidosis
Failure to thrive, Acrocyanosis, Vascular skin abnormality, Cardiomegaly ORPHA:349
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Respiratory failure, Gene... ORPHA:805
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Growth delay, Respirato... ORPHA:731
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Respiratory failure ORPHA:3240
Osteopetrosis, Autosomal Recessive 5
Growth delay, Respiratory failure, Stillbirth, Short stature OMIM:259720
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Premature graying of hair, Aortic... ORPHA:363618
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... ORPHA:97214
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Miscarriage, Short stature, Large for gestational age, Postnatal growt... ORPHA:96334
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Niemann-Pick Disease Type C
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... ORPHA:646
Neonatal Marfan Syndrome
Neonatal respiratory distress, Small for gestational age, Abnormal cardiac ventricle morphology, ... ORPHA:284979
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Ellis Van Creveld Syndrome
Failure to thrive, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situ... ORPHA:289
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Fabry Disease
Conjunctival telangiectasia, Abnormal endocardium morphology, Telangiectasia of the skin, Angioke... ORPHA:324
Myhre Syndrome
Ventricular septal defect, Short stature, Small for gestational age, Pericardial effusion, Obesit... OMIM:139210
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Cardiomyopathy, Vasculitis in the skin... ORPHA:48435
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Miscarriage, Pulmonary artery hypopla... OMIM:245150
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral val... ORPHA:2556
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Severe short stature, Small for gestational age, Emphysema, Del... OMIM:616835
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:2912
Autosomal Recessive Cutis Laxa Type 1
Severe short stature, Dilatation of the ventricular cavity, Pneumothorax, Recurrent pneumonia, Re... ORPHA:90349
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Mitral v... ORPHA:740
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Failure to thrive in infancy, Proportionate short stature, Abnormal hea... ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Atrial septal defect, Death in infancy, Respiratory failure, Large for gestational age OMIM:300868
Abetalipoproteinemia
Respiratory failure, Failure to thrive, Cardiomegaly ORPHA:14
Pitt-Hopkins Syndrome
Postnatal growth retardation, Growth delay, Acrocyanosis, Failure to thrive, Abnormal pattern of ... ORPHA:2896
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Autosomal Dominant Cutis Laxa
Prematurely aged appearance, Postnatal growth retardation, Dilatation of the ventricular cavity, ... ORPHA:90348
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... ORPHA:273
Primary Hyperoxaluria
Cardiomyopathy, Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Otopalatodigital Syndrome, Type Ii
Short stature, Postnatal growth retardation, Respiratory insufficiency, Respiratory failure, Stil... OMIM:304120
Fraser Syndrome 2
Respiratory failure OMIM:617666
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cyanosis, Failure to thrive in infancy, Cardiomega... ORPHA:51608
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Respiratory failure, Severe short stature, Intrauterine growth retardation ORPHA:2636
Aicardi-Goutières Syndrome
Cutis marmorata, Short stature, Cardiomegaly, Prolonged neonatal jaundice, Hypertrophic cardiomyo... ORPHA:51
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Tricuspid valve prolapse,... ORPHA:287
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Short stature, Decreased body weight OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea 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
Adra2btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Adra2btm421524(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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