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Gene: Stk40 MGI:1921428

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
serine/threonine kinase 40
Synonyms:
2310004N11Rik

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 Stk40 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Stk40 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
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates, Cough ORPHA:64741
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... ORPHA:70588
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... ORPHA:724
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress, Obesity OMIM:615993
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, T... ORPHA:36238
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia, Death in childhood, Neonatal death, Failure to thrive OMIM:614096
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia OMIM:616733
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency OMIM:601612
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid... ORPHA:142
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... OMIM:178550
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... ORPHA:90060
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema ORPHA:60
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Dyspnea, Abnormal pulmonary interstitial morphology, Diffuse re... OMIM:607616
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... ORPHA:79128
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o... ORPHA:99931
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... OMIM:233450
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... OMIM:614742
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul... OMIM:618278
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Congenital Heart Block
Patent ductus arteriosus, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... ORPHA:3392
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... ORPHA:2038
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Cyanosis, Patent ductus arteriosus, Aortopul... ORPHA:99050
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... ORPHA:3309
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Ketotic hypoglycemia ORPHA:26792
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Maternal diabetes, Patent ductus arteriosus, Tachypnea, Anom... ORPHA:860
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neonatal death, H... OMIM:231680
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... OMIM:613177
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... ORPHA:70578
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive OMIM:616974
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... ORPHA:980
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... ORPHA:555874
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura ORPHA:319213
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Respiratory insufficiency ORPHA:436
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Small for gestational age, Fail... ORPHA:1199
Short-Rib Thoracic Dysplasia 12
Atelectasis, Patent ductus arteriosus, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal ... OMIM:269860
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Hypoadrenocorticism, Familial
Cyanosis, Apnea, Hypoglycemia OMIM:240200
Succinic Acidemia
Respiratory distress OMIM:600335
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... ORPHA:183
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... ORPHA:1329
Double Outlet Right Ventricle
Pulmonary artery atresia, Failure to thrive, Cyanosis, Tachypnea ORPHA:3426
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Patent ductus arteriosus, Hypoxemia, Pulmonary hypoplasia, Pulmona... ORPHA:2847
Fanconi Renotubular Syndrome 5
Pulmonary fibrosis, Glycosuria, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
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
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency OMIM:255320
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness OMIM:613561
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypoglycemia OMIM:614741
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Jaund... ORPHA:26793
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Bronchial Neuroendocrine Tumor
Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Decreased body weight, Neonatal death, Petechi... OMIM:608013
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy, Pulmonary fibrosis OMIM:612852
Myopathy And Diabetes Mellitus
Respiratory distress, Type I diabetes mellitus ORPHA:2596
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood OMIM:615597
Double Outlet Left Ventricle
Cyanosis, Patent ductus arteriosus, Pulmonary artery stenosis, Tachypnea, Failure to thrive ORPHA:3427
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Hypoglycemia, Fasting hypoglycemia, Impaired gluconeogenesis OMIM:261680
Zygomycosis
Sinusitis, Diabetes mellitus, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute ... ORPHA:73263
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Meckel Syndrome 14
Pneumothorax, Cyanosis, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Emphysema, Failure to... OMIM:242700
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis, Type I diabetes mellitus OMIM:620365
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive ORPHA:329178
Malaria
Respiratory distress ORPHA:673
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:224410
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth, Pulmonary hypoplasia OMIM:236500
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Sepsis In Premature Infants
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... ORPHA:90051
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Hypoglycemia, Patent ductus arteriosus, Recurren... OMIM:607143
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal p... ORPHA:31826
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Patent ductus arteriosus, Failure to thrive, Telangiectasia OMIM:608799
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:2655
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Neonatal hypoglycemia, Pulmonary edema OMIM:261740
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae OMIM:602473
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Wei... ORPHA:537
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Acrocyanosis, Impaired glucose tolerance OMIM:614407
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Carnitine Deficiency, Systemic Primary
Respiratory distress, Impaired gluconeogenesis, Recurrent hypoglycemia, Failure to thrive OMIM:212140
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Matthew-Wood Syndrome
Abnormal lung morphology, Failure to thrive, Pulmonary hypoplasia ORPHA:2470
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Poems Syndrome
Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ven... ORPHA:2905
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Tarp Syndrome
Failure to thrive, Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Chand Syndrome
Atelectasis ORPHA:1401
Q Fever
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Cough, ... ORPHA:781
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... OMIM:123700
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... ORPHA:96179
Histiocytoid Cardiomyopathy
Cyanosis, Hypoglycemia, Tachypnea, Cough, Failure to thrive, Pulmonary edema ORPHA:137675
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Respiratory insufficiency ORPHA:994
Common Variable Immunodeficiency
Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Restri... ORPHA:1572
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Fasting hypoglycemia, Hypoketotic hyp... ORPHA:159
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pa... OMIM:617303
22Q11.2 Deletion Syndrome
Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Obesity, Patent ductu... ORPHA:567
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Hypoglycemia, Dyspnea, A... ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Glycosuria, Respiratory f... OMIM:220110
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion ORPHA:1546
Serkal Syndrome
Pulmonary hypoplasia ORPHA:139466
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616866
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss ORPHA:79242
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary... ORPHA:3260
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis ORPHA:36234
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Patent ductus arteriosus, Cyanosis ORPHA:3304
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Buerger Disease
Acrocyanosis ORPHA:36258
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Failu... ORPHA:534
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema ORPHA:79330
Hsd10 Disease, Infantile Type
Cyanosis, Hypoglycemia ORPHA:391428
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Type I diabetes mellitus OMIM:620166
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Small for gestational age, Pulmonary hypoplasia OMIM:616897
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia OMIM:191830
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary h... OMIM:618316
Meier-Gorlin Syndrome 4
Emphysema, Failure to thrive OMIM:613804
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Cocaine Intoxication
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... ORPHA:90068
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Meacham Syndrome
Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Cardiac to... OMIM:608978
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Patent ductus arteriosus, Alveolar capillary dysplasia, Respirator... OMIM:601186
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis OMIM:223900
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Weight loss, Hypoxemia, Pleu... OMIM:181000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Hypoglycemia OMIM:251000
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Aortic Arch Interruption
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Aortopulmonary window, Exert... ORPHA:2299
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... ORPHA:37042
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Neonatal hypoglycemia OMIM:616271
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Congenital Myopathy 17
Respiratory tract infection, Failure to thrive in infancy, Pulmonary hypoplasia, Respiratory insu... OMIM:618975
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonar... ORPHA:228116
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Patent duc... ORPHA:363705
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:1865
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Patent ductus arteriosus, Total anomalou... OMIM:306955
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:608149
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Digeorge Syndrome
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Obesity, Patent ductus a... OMIM:188400
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive OMIM:224690
Eosinophilic Fasciitis
Acrocyanosis, Weight loss ORPHA:3165
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Hypoglycemia, Respiratory insufficiency, Respiratory failure, ... OMIM:252010
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Pulmonary hypoplasia OMIM:615503
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive, ... ORPHA:79329
Dravet Syndrome
Cyanotic episode ORPHA:33069
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... ORPHA:293987
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Hypoglycemia, Patent ductus arteri... ORPHA:17
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir... ORPHA:79139
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido... ORPHA:79404
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Mosaic Trisomy 16
Small for gestational age, Maternal diabetes, Patent ductus arteriosus, Abnormal lung morphology,... ORPHA:1708
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Hypoglycemia, Jaundice, Failure to thrive OMIM:617156
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... OMIM:208500
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Patent ductus arteriosus, Prolonged neonatal jaundice, Pulmonary h... OMIM:214100
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Moebius Syndrome
Respiratory distress OMIM:157900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Stridor, Pulmon... ORPHA:505248
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Distal Triplication 15Q
Patent ductus arteriosus, Pulmonary hypoplasia, Large for gestational age ORPHA:314588
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Respiratory failure requiring assisted ventilation, Elevated pulmonary ... OMIM:619351
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Caudal Regression Syndrome
Pulmonary hypoplasia, Maternal diabetes ORPHA:3027
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Thoracoabdominal Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:313850
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Pulmonary hypoplasia ORPHA:1848
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Obesity ORPHA:177907
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Oligomeganephronia
Pulmonary venous occlusion, Small for gestational age, Pulmonary hypoplasia ORPHA:2260
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia OMIM:263200
Coccidioidomycosis
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... ORPHA:228123
Myasthenia Gravis
Dyspnea, Acrocyanosis, Glycosuria ORPHA:589
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Shwachman-Diamond Syndrome 1
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Small for gestational a... OMIM:260400
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Vasculitis in the skin, Acrocyanosis, ... ORPHA:48435
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... ORPHA:805
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hypoglycemia, Jaundice, Hepatocellular necrosis, Recurrent hypoglycemia, Pr... OMIM:256810
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Small for gestational age, Pulmonary hypoplasia OMIM:619148
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:616300
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Patent ductus ... ORPHA:97214
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... OMIM:601559
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Aicardi-Goutieres Syndrome 1
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Failure to thrive, Pulmonary hypoplasia ORPHA:2990
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Tracheomalacia OMIM:217980
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Fucosidosis
Failure to thrive, Acrocyanosis, Vascular skin abnormality ORPHA:349
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight OMIM:615273
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Truncal obesity ORPHA:404448
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight ORPHA:1051
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus OMIM:612863
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration, Failure to thrive, Flushing ORPHA:2131
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Patent ductus arteriosus, Pulmonary hypoplasia OMIM:208540
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive, Pulmonary hypoplasia ORPHA:83617
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus, Pulmonary hypoplasia, Large for gestational age OMIM:614080
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Pu... ORPHA:2255
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypoglycemia, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension... ORPHA:79282
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Leptospirosis
Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage ORPHA:509
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo... OMIM:620025
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... OMIM:612289
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Ulbright-Hodes Syndrome
Respiratory distress, Maternal diabetes, Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Raine Syndrome
Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Erythema, Pulmonary hypoplasia OMIM:308050
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy, Pulmonary hypoplasia ORPHA:798
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... ORPHA:991
Pitt-Hopkins Syndrome
Failure to thrive, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Atelosteogenesis Type Ii
Tracheobronchomalacia, Pulmonary hypoplasia ORPHA:56304
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia ORPHA:1692
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Insulin resistance, Upper airway obstruction, Weig... ORPHA:740
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Rubinstein-Taybi Syndrome 1
Respiratory distress, Small for gestational age, Respiratory tract infection, Patent ductus arter... OMIM:180849
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Patent duc... OMIM:616268
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Renal tubula... ORPHA:95455
Otopalatodigital Syndrome Type 2
Failure to thrive, Pulmonary hypoplasia ORPHA:90652
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Failure to thrive, Cyanosis, Patent ductus arteriosus ORPHA:216694
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation ORPHA:255210
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Patent ductus arteriosus OMIM:618188
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:210122
8Q24.3 Microdeletion Syndrome
Respiratory distress, Patent ductus arteriosus, Abnormal lung lobation, Small for gestational age ORPHA:508488
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Greenberg Dysplasia
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
Ogden Syndrome
Prematurely aged appearance, Apnea, Facial wrinkling, Maternal diabetes, Jaundice, Pulmonary arte... OMIM:300855
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ketoac... ORPHA:358
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu... ORPHA:731
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia, Large for gestational age OMIM:229850
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:265000
Distal Deletion 15Q
Patent ductus arteriosus, Failure to thrive, Small for gestational age, Pulmonary hypoplasia ORPHA:1596
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Decreased body weight OMIM:617063
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Alg9-Cdg
Asthma, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:79328
Restrictive Dermopathy 1
Prominent superficial blood vessels, Patent ductus arteriosus, Stillbirth, Pulmonary hypoplasia, ... OMIM:275210
Fetal Akinesia Deformation Sequence 1
Stillbirth, Small for gestational age, Pulmonary hypoplasia OMIM:208150
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Pulmonary hypoplasia, Respiratory insufficiency, Restrictive ventilatory d... ORPHA:536471
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Failure to thrive ORPHA:2556
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Pul... OMIM:256520
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:263520
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Patent ductus arteriosus, Abnormal lung lobation, Pulmonary hypoplasia, Cutaneou... ORPHA:818
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Failure to thrive, Pulmonary hypoplasia ORPHA:2753
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Smith-Lemli-Opitz Syndrome
Death in infancy, Patent ductus arteriosus, Abnormal lung lobation, Severe photosensitivity, Pulm... OMIM:270400
Plague
Acute infectious pneumonia, Respiratory distress ORPHA:707
Cardiac-Urogenital Syndrome
Tracheomalacia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pulmonary hy... OMIM:618280
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Dpagt1-Cdg
Failure to thrive, Pulmonary hypoplasia ORPHA:86309
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Large for gestational age, Pulmonary artery stenosis, Restrictive ventilatory defect... ORPHA:96334
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia, Maternal diabetes ORPHA:49
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Isolated Arrhinia
Respiratory distress ORPHA:1134
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy ORPHA:51608
Aicardi-Goutières Syndrome
Diabetes mellitus, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice ORPHA:51
Osteogenesis Imperfecta
Neonatal respiratory distress, Bruising susceptibility, Small for gestational age, Pulmonary hypo... ORPHA:666
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Patent ductus arter... ORPHA:480880
Meckel Syndrome, Type 1
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:249000
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Recurrent pneumonia ORPHA:99646
Tetrasomy 9P
Pulmonary arterial hypertension, Jaundice, Pulmonary hypoplasia ORPHA:3310
Fraser Syndrome
Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Restrictive Dermopathy
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1662
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Patent ductus arteriosus OMIM:617088
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Insulin resistance, Recurrent upper respiratory trac... ORPHA:64
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Decreased body weight OMIM:303600
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Respiratory insufficiency ORPHA:93271
Pmm2-Cdg
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Insulin resistance, Hyperins... ORPHA:79318
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Pallister-Killian Syndrome
Patent ductus arteriosus, Obesity, Apneic episodes in infancy, Stillbirth, Pulmonary hypoplasia, ... OMIM:601803
Craniofacial Microsomia 1
Patent ductus arteriosus, Pulmonary hypoplasia OMIM:164210
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800

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 Stk40

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 Stk40.

No publications found that use IMPC mice or data for Stk40.

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
Stk40em1(IMPC)Marc Deletion Mice
Stk40tm498(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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