Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
wingless-type MMTV integration site family, member 7B
Synonyms:
Wnt-7b

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Wnt7b 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 Wnt7b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Larsen-Like Syndrome, Lethal Type
Pulmonary insufficiency, Tracheomalacia, Laryngomalacia, Respiratory insufficiency, Neonatal deat... OMIM:245650
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy, Hypertrophic cardiomyopathy OMIM:614096
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Maple Syrup Urine Disease
Respiratory insufficiency, Abnormality of the pharynx ORPHA:511
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia, Pulmonary arterial hypertens... OMIM:619003
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Hepatojugular reflux, Late inspiratory ... ORPHA:2302
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Congenital Pulmonary Airway Malformation
Abnormal pleura morphology, Respiratory insufficiency ORPHA:2444
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Abnormality of the pharynx ORPHA:718
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Abnormally loud pulmonic component of the second heart sound, Pul... OMIM:265450
Pulmonary Fibrosis, Idiopathic
Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Elevated broncho... OMIM:178500
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Cystic Hamartoma Of Lung And Kidney
Hypertension, Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares OMIM:613124
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Hypotension, Pneumonia, Atelectasis, Tachycardia, Pulmonary edema, C... ORPHA:70587
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... ORPHA:132
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Wide nasal bridge OMIM:224410
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Depressed nasal br... OMIM:256050
Microphthalmia, Syndromic 12
Pulmonary hypoplasia, Wide nasal bridge, Broad nasal tip OMIM:615524
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Renal Tubular Dysgenesis
Hypotension, Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress, Hypertension OMIM:616733
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough, Neonatal respiratory d... OMIM:615451
Adult Acute Respiratory Distress Syndrome
Dyspnea, Hypotension, Pneumonia, Respiratory failure, Pulmonary edema, Abnormal blood gas level, ... ORPHA:70578
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Cough, Respiratory... OMIM:616037
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency OMIM:605711
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Scedosporiosis
Pleuritis, Pericarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breat... ORPHA:449280
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Nephronophthisis 2
Pulmonary insufficiency, Hypertension, Respiratory insufficiency, Pulmonary hypoplasia, Respirato... OMIM:602088
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Neonatal death, Pulmonary hypoplasia, Anteverted nares OMIM:236500
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy, Short nose, Depressed nasal bridge OMIM:241800
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Chronic bronc... OMIM:612649
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia OMIM:236640
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Minicore Myopathy With External Ophthalmoplegia
Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency OMIM:255320
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Res... OMIM:614874
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Pulmonic stenosis, Aortic valve stenosis, Pulmonary hypoplasia, Hypertrophic cardiomy... OMIM:615415
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Palpitations, Neonatal respiratory distress, Pulmonary hypoplasia, Mitra... ORPHA:2847
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Chronic bronch... OMIM:615500
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Hemothorax, Joint hemorrhage, Bruising susceptibility OMIM:262850
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Abnormal axonem... OMIM:613808
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Cerebral ischemia ORPHA:3325
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Wheezing, Bronch... ORPHA:244
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Anteverted nares OMIM:601163
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respiratory distress, Recurrent... OMIM:608644
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Thanatophoric Dysplasia
Pulmonary hypoplasia, Respiratory insufficiency, Depressed nasal bridge ORPHA:2655
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Irregula... ORPHA:90060
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Respiratory insufficiency, Respiratory failure, Dilated cardiomyopathy, Hypertr... OMIM:614299
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary insufficiency, Pulmonary arterial hypertension, Abnorma... ORPHA:70588
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure OMIM:616794
Ciliary Dyskinesia, Primary, 14
Chronic sinusitis, Abnormal ciliary motility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Absen... OMIM:613807
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Abnormal bleeding, Palpitations, Dyspnea, Ischemic stroke, Hemothorax, Coug... ORPHA:2038
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy, Bradycardia OMIM:617248
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Fetal Akinesia Deformation Sequence
Pulmonary hypoplasia, Respiratory insufficiency, Depressed nasal bridge ORPHA:994
Odontochondrodysplasia 1
Pulmonary hypoplasia, Death in infancy, Recurrent respiratory infections, Respiratory distress OMIM:184260
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Cardiogenic sh... ORPHA:563
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Recurrent respiratory infections, Laryngeal cleft, Laryngomalacia, Neonatal respi... ORPHA:2004
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Tonne-Kalscheuer Syndrome
Prominent nose, Pulmonary hypoplasia, Prominent nasal bridge, Wide nasal bridge OMIM:300978
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Pulmonary Hypertension, Primary, 1
Dyspnea, Right ventricular failure, Pulmonary aterial intimal fibrosis, Pulmonary arterial medial... OMIM:178600
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Respiratory failure, Tachyc... ORPHA:542323
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Hypertension, Recurrent pneumonia OMIM:268500
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:1046
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... OMIM:106700
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Pulmonary hypoplasia, Pulmonary artery atresia, Anteverted nares, Depressed na... OMIM:618316
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Respiratory failure, Bruising susceptibility, R... ORPHA:3226
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, Pulmonary embolism, Hemoptys... ORPHA:228116
Mercury Poisoning
Dyspnea, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypertension, Respiratory f... ORPHA:330021
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Neonatal death, Pulmonary hypoplasia, Hypertension OMIM:263200
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Hypertension OMIM:191830
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress, Depressed nasal bridge OMIM:231680
Tetrasomy 5P
Short nose, Respiratory distress, Wide nasal bridge, Heart murmur, Pulmonary hypoplasia, Congesti... ORPHA:3309
Kagami-Ogata Syndrome
Laryngomalacia, Pulmonic stenosis, Pulmonary hypoplasia, Pulmonary arterial hypertension, Antever... OMIM:608149
Diaphanospondylodysostosis
Short nose, Respiratory distress, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia... OMIM:608022
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Scimitar Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Respiratory... ORPHA:185
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Laryngospasm, Abnormal respiratory system physiology ORPHA:803
Snakebite Envenomation
Cardiogenic shock, Ecchymosis, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis... ORPHA:449285
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Gillessen-Kaesbach-Nishimura Syndrome
Pulmonary hypoplasia, Underdeveloped nasal alae, Abnormal lung lobation OMIM:263210
Hyperekplexia 4
Respiratory failure OMIM:618011
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:474
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, De... OMIM:266910
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Dysplastic Cortical Hyperostosis
Aplasia/Hypoplasia of the lungs ORPHA:2204
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Broad nasal tip, Underdeveloped nasal alae, Depressed nasal bridge ORPHA:250999
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia, Anteverted nares, Hypertro... OMIM:616897
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency ORPHA:370968
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Supraventricular arrhythmia, Orthopnea, Atrial fibrillation, Abnormal left ventricular f... ORPHA:75249
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Hypertrophic cardiomyopathy OMIM:619386
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Pulmonary art... OMIM:613177
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilation, Pulmonary... OMIM:619351
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... ORPHA:2414
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia, Congestive heart failure, Cardiomyopathy OMIM:616866
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Depressed nasal bridge ORPHA:85166
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Arrhythmia, Respiratory insufficiency, Congestive heart failure, R... OMIM:310200
Anti-Glomerular Basement Membrane Disease
Purpura, Cough, Respiratory insufficiency, Hemoptysis, Vasculitis, Pulmonary infiltrates ORPHA:375
Riddle Syndrome
Chronic sinusitis, Conjunctival telangiectasia, Restrictive ventilatory defect, Intraventricular ... ORPHA:420741
Joubert Syndrome 21
Dyspnea, Single naris, Pulmonary hypoplasia, Apnea OMIM:615636
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:96179
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Microphthalmia, Syndromic 9
Respiratory insufficiency, Wide nasal bridge, Pulmonic stenosis, Bilateral lung agenesis, Pulmona... OMIM:601186
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hy... OMIM:601559
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Respiratory insufficiency OMIM:615330
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
Glutamine Deficiency, Congenital
Apnea, Short nose, Wide nasal bridge, Bradycardia, Neonatal respiratory distress, Neonatal death,... OMIM:610015
Vacterl Association With Hydrocephalus
Respiratory failure, Stillbirth, Respiratory insufficiency OMIM:276950
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dyspnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dilat... ORPHA:352447
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Pulmonary artery stenosis, Bilateral lung agenesis OMIM:611812
Spastic Paraplegia Type 2
Pulmonary embolism, Recurrent respiratory infections ORPHA:99015
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Death in infancy, Respiratory insufficiency, Tricuspid regurgi... ORPHA:1120
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Tricuspid ... ORPHA:555874
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Internal hemorrhage, Respiratory insufficie... ORPHA:90308
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia, Prominent nasal bridge, Wide nose, Prominent nose ORPHA:85201
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Malignant Atrophic Papulosis
Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Pleural effusion, Telangiectasia of the ... ORPHA:679
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:932
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618329
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Reduced vital... ORPHA:98913
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Abn... ORPHA:1199
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Dyssegmental Dysplasia, Silverman-Handmaker Type
Pulmonary hypoplasia, Respiratory insufficiency, Wide nasal bridge ORPHA:1865
Leigh Syndrome
Respiratory failure, Respiratory insufficiency, Abnormal pattern of respiration OMIM:256000
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Meckel Syndrome, Type 6
Pulmonary hypoplasia OMIM:612284
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Abnormal morphology of musculature of pharynx, Laryngeal stridor ORPHA:280210
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Anteverted nares, Bulbous nose OMIM:616505
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs ORPHA:2570
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia, Wide nose OMIM:251230
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency OMIM:618975
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:93298
Antisynthetase Syndrome
Aortic regurgitation, Pulmonary fibrosis, Cough, Respiratory insufficiency, Telangiectasia of the... ORPHA:81
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2725
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Death in infancy, Congestive heart failure, Respiratory failure, Hypertrophic cardiom... ORPHA:1194
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Caudal Regression Sequence
Pulmonary hypoplasia, Hypertension ORPHA:3027
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Dyspnea, Cough, Respiratory insufficiency, Abnormal pulm... OMIM:615486
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Res... ORPHA:444013
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Anteverted nares, Short nose ORPHA:93299
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Recur... OMIM:208500
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Hypoventilation, Arrhythmia, Respiratory insufficiency, Atelectasis, I... ORPHA:258
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Myopathy, Centronuclear, X-Linked
Neonatal respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory fa... OMIM:310400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Ventilator dependence with inability to wean, Respiratory failure, Inspiratory stridor OMIM:604320
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Marden-Walker Syndrome
Pulmonary hypoplasia, Anteverted nares OMIM:248700
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Sandestig-Stefanova Syndrome
Respiratory failure, Wide nasal bridge OMIM:618804
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Respiratory insufficiency, Laryngomalacia ORPHA:93941
Complete Atrioventricular Septal Defect
Wheezing, Tachypnea, Right ventricular failure, Elevated pulmonary artery pressure, Third heart s... ORPHA:1329
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Depressed nasal bridge ORPHA:2635
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Arrhythmia, Dyspnea, Cardiorespiratory arrest, Congestive heart f... ORPHA:26791
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Respiratory failure, Pneumothorax ORPHA:445038
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Depressed nasal bridge ORPHA:93274
Atelosteogenesis Type I
Laryngotracheal stenosis, Pulmonary hypoplasia, Laryngeal stenosis ORPHA:1190
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Apnea, Arrhythmia, Bulbous nose, Respiratory distress, Respir... OMIM:608836
Nocardiosis
Abnormal sputum, Pleuritis, Pericarditis, Respiratory distress, Dyspnea, Pleural effusion, Emphys... ORPHA:31204
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:1848
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory insufficiency, Prominent nose OMIM:616300
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Pulmon... ORPHA:99106
Acro-Renal-Mandibular Syndrome
Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal lung lobation ORPHA:958
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Czeizel-Losonci Syndrome
Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:2437
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Greenberg Dysplasia
Abnormal lung lobation, Tracheal calcification, Stillbirth, Pleural effusion, Neonatal death, Lar... OMIM:215140
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Pagod Syndrome
Arrhythmia, Death in infancy, Pulmonary artery hypoplasia, Sudden cardiac death, Pulmonary hypopl... ORPHA:991
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Choanal atresia, Wide nasal bridge OMIM:619148
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hypertension ORPHA:363400
Truncus Arteriosus
Aortic regurgitation, Abnormal heart valve physiology, Anomalous origin of one pulmonary artery f... ORPHA:3384
Raine Syndrome
Short nose, Choanal atresia, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge OMIM:259775
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Short nose ORPHA:2145
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Depressed nasal bridge OMIM:615503
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Short nose, Pulmonary hypoplasia OMIM:200995
Renal Agenesis
Pulmonary hypoplasia, Hypertension ORPHA:411709
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Respiratory failure, Anteverted nares, Depressed nasal bridge OMIM:617301
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Right ventricular failure, Respiratory distr... ORPHA:99125
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Hec Syndrome
Cardiomyopathy, Arrhythmia, Respiratory insufficiency, Abnormality of the pharynx ORPHA:2119
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory distress, Bruising susceptibility, Trache... ORPHA:536467
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia, Wide nasal bridge, Depressed nasal bridge ORPHA:1692
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:2990
Poliomyelitis
Hypotension, Respiratory failure requiring assisted ventilation, Hypertension, Respiratory failur... ORPHA:2912
Arterial Tortuosity Syndrome
Dyspnea, Respiratory distress, Short nose, Cardiorespiratory arrest, Hypertension, Telangiectasia... ORPHA:3342
Opitz Gbbb Syndrome, Type Ii
Aspiration, Laryngeal cleft, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary arterial hyperten... OMIM:145410
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis OMIM:269860
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Pulmonary hypoplasia, Stillbirth OMIM:308050
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Anteverted nares, Depressed nasal bridge OMIM:616503
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Hypertension ORPHA:2260
Atelosteogenesis Type Ii
Laryngeal cartilage malformation, Pulmonary hypoplasia, Tracheobronchomalacia, Laryngeal stenosis ORPHA:56304
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Boomerang Dysplasia
Hypoplastic nasal septum, Neonatal death, Underdeveloped nasal alae, Wide nasal bridge OMIM:112310
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Respiratory failure OMIM:607598
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:265000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Neonatal death, Pulmonary hypoplasia, Depressed nasal ... OMIM:617925
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Infantile Krabbe Disease
Respiratory failure, Abnormal heart rate variability, Respiratory distress, Laryngomalacia ORPHA:206436
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia, Choanal atresia OMIM:617063
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Depressed nasal bridge OMIM:616546
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Dyspnea, Hypotension, Mitral regurgitation, Abnorm... ORPHA:97292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia, Anteverted nares, Short nose, Depressed nasal bridge OMIM:614080
Leigh Syndrome With Cardiomyopathy
Apnea, Cardiac conduction abnormality, Respiratory distress, Central hypoventilation, Pulmonic st... ORPHA:70474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure, Anteverted nares, Laryngomalacia, Depressed nasal bridge ORPHA:254528
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Boutonneuse Fever
Vasculitis, Petechiae, Respiratory failure ORPHA:83313
Distal Tetrasomy 15Q
Pulmonary hypoplasia ORPHA:314588
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Melena, Cerebral hemorrhage,... OMIM:187300
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Respiratory insufficiency, Congestive heart failure, Respiratory failure, Dilated car... OMIM:609015
Autosomal Recessive Polycystic Kidney Disease
Spontaneous pneumothorax, Hypoventilation, Gastrointestinal hemorrhage, Hypertension, Pulmonary h... ORPHA:731
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Pulmonary hypoplasia OMIM:208540
Peroxisome Biogenesis Disorder 1A (Zellweger)
Pulmonary hypoplasia, Anteverted nares OMIM:214100
Tarp Syndrome
Apnea, Pulmonary hypoplasia, Anteverted nares, Wide nasal bridge ORPHA:2886
Fryns Syndrome
Pulmonary hypoplasia, Anteverted nares, Wide nasal bridge ORPHA:2059
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Respiratory insufficiency, Congestive heart failure, Respira... ORPHA:746
Otopalatodigital Syndrome Type 2
Hypoplastic frontal sinuses, Pulmonary hypoplasia, Short nose, Depressed nasal bridge ORPHA:90652
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Stillbirth OMIM:259720
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:2063
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Anteverted nares, Short nose, Depressed nasal bridge ORPHA:50945
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Pulmonary embolism ORPHA:567548
Fontaine Progeroid Syndrome
Short nose, Death in infancy, Respiratory insufficiency, Tricuspid regurgitation, Neonatal death,... OMIM:612289
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Abnormality of the larynx, Tricuspid regurgitation, Hypoplasia of the epiglottis, Pulmonary hypop... OMIM:263520
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Single naris, Pulmonary hypoplasia, Choanal atresia OMIM:273395
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Subcutaneous hemorrhage, Purpura ORPHA:743
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu... OMIM:615344
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Depressed nasal bridge ORPHA:1860
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth, Depressed nasal bridge OMIM:304120
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Bloom Syndrome
Respiratory tract infection, Chronic pulmonary obstruction, Pneumonia, Respiratory failure, Rhini... ORPHA:125
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Respiratory failure, Death in ... OMIM:610505
Vacterl With Hydrocephalus
Pulmonary hypoplasia, Tracheoesophageal fistula ORPHA:3412
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Purpura ORPHA:745
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Prominent nose, Respiratory failure, Recurrent pneumonia, Pro... ORPHA:647
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the larynx, Aplasia/Hypoplasia of the lungs, Tracheal stenosis, Aplasia/Hypoplasia... ORPHA:3301
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, Laryngeal stridor ORPHA:2549
Cardiac-Urogenital Syndrome
Scimitar anomaly, Bronchomalacia, Pulmonary hypoplasia OMIM:618280
Fryns Syndrome
Stillbirth, Wide nasal bridge, Pulmonary hypoplasia, Chylothorax, Anteverted nares OMIM:229850
Fraser Syndrome
Midline nasal groove, Underdeveloped nasal alae, Subglottic stenosis, Death in infancy, Laryngeal... ORPHA:2052
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Pneumonia OMIM:226300
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory distress, Internal hemorrhage, Hypertension, Respiratory... ORPHA:805
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Restrictive ventilatory defect, Wide nasal bridge, Laryngomalacia, Pulmonary hypoplasia, Respirat... ORPHA:96334
Prune Belly Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:2970
Ulbright-Hodes Syndrome
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, Depressed nasal br... ORPHA:3404
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Respiratory failure, Abnormality of... ORPHA:79404
Short Rib-Polydactyly Syndrome
Abnormal epiglottis morphology, Respiratory failure, Abnormal larynx morphology, Depressed nasal ... ORPHA:1505
Orofaciodigital Syndrome Type 4
Short nose, Choanal atresia, Laryngomalacia, Pulmonary hypoplasia, Bilateral lung agenesis, Recur... ORPHA:2753
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure ORPHA:3240
Fetal Akinesia Deformation Sequence 1
Pulmonary hypoplasia, Stillbirth OMIM:208150
Fraser Syndrome 1
Laryngeal atresia, Underdeveloped nasal alae, Midline nasal groove, Subglottic stenosis, Laryngea... OMIM:219000
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia, Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge ORPHA:83617
Penile Agenesis
Short nose, Pulmonary hypoplasia, Bilateral lung agenesis, Tracheoesophageal fistula, Depressed n... ORPHA:49
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Prolonged prothrombin time, Cardiomyopathy ORPHA:88618
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Schinzel-Giedion Syndrome
Broad nasal tip, Short nose, Respiratory distress, Laryngomalacia, Pulmonary hypoplasia, Hypoplas... ORPHA:798
Smith-Lemli-Opitz Syndrome
Abnormality of the larynx, Choanal atresia, Wide nasal bridge, Pulmonary hypoplasia, Tracheal ste... ORPHA:818
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Hemifacial Microsomia
Pulmonary hypoplasia OMIM:164210
Costello Syndrome
Obstructive sleep apnea, Arrhythmia, Tracheomalacia, Respiratory insufficiency, Pulmonic stenosis... OMIM:218040
Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory insufficiency, Pulmonic stenosis, Aortic ... ORPHA:536471
Restrictive Dermopathy, Lethal
Pulmonary hypoplasia, Choanal atresia, Stillbirth OMIM:275210
Ehlers-Danlos Syndrome, Vascular Type
Spontaneous pneumothorax, Ecchymosis, Emphysema, Pulmonary bulla, Hemothorax, Nodular pattern on ... OMIM:130050
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Respiratory tract infection, Dyspnea, Pleural effusion, Hypertension, Pulmonary embolism ORPHA:567546
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Cardiomyopathy, Respiratory failure, Hypovolemic shock ORPHA:158687
Niemann-Pick Disease, Type C2
Respiratory failure, Respiratory insufficiency OMIM:607625
Listeriosis
Arteritis, Respiratory distress, Pericarditis, Pneumonia, Congestive heart failure, Respiratory f... ORPHA:533
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Wide nasal bridge, Pulmonary hypoplasia, Anteverted nares, Depressed nasa... OMIM:270400
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Pulmonary hypoplasia, B... ORPHA:666
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, P... ORPHA:646
Leigh Syndrome
Abnormal pattern of respiration, Congestive heart failure, Respiratory failure, Hypertrophic card... ORPHA:506
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula ORPHA:1834
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Hypocapnia, Central sleep apnea, Right ventricular failure, Exertional dyspnea, Car... ORPHA:70591
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Aortic valve stenosis, Aplasia/Hypopl... ORPHA:3097
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Bifid epiglottis, Respiratory insufficiency, Pulmonary hypoplasia, Wide nose, Depressed nasal bridge ORPHA:93271
Meckel Syndrome, Type 1
Abnormality of the larynx, Pulmonary hypoplasia OMIM:249000
Tetrasomy 9P
Pericarditis, Bulbous nose, Pulmonary hypoplasia, Pulmonary arterial hypertension, Raynaud phenom... ORPHA:3310
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Dyspnea, Respiratory distress, Tricuspid regurgitation, Wide nasal bridge, Respirator... ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Myhre Syndrome
Laryngotracheal stenosis, Respiratory insufficiency, Hypertension, Aortic valve stenosis, Respira... OMIM:139210
Neu-Laxova Syndrome 1
Pulmonary hypoplasia, Stillbirth OMIM:256520
Genitopatellar Syndrome
Laryngomalacia, Pulmonary hypoplasia, Prominent nasal bridge, Wide nose, Prominent nose OMIM:606170
Distal Monosomy 15Q
Pulmonary hypoplasia, Mitral stenosis, Broad nasal tip ORPHA:1596
49,Xxxxy Syndrome
Pulmonary embolism, Asthma, Recurrent respiratory infections, Wide nose, Depressed nasal bridge ORPHA:96264
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Pulmonary embolism, Arrhythmia ORPHA:624
Vacterl/Vater Association
Tracheal stenosis, Aplasia/Hypoplasia of the lungs, Tracheoesophageal fistula, Laryngomalacia ORPHA:887
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory failure, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:252010
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Supraventricular arrhythmia, Pulmonary fibrosis, Intracranial hemo... ORPHA:3260
48,Xxxy Syndrome
Pulmonary embolism, Asthma, Recurrent respiratory infections ORPHA:96263
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, Pulmonary arterial ... OMIM:600376
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Pulmonary embolism, Myocardial infarction, Arte... ORPHA:464343
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Respiratory failure, Prolonged prothrombin time ORPHA:14
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Ischemic stroke, Short nose, Emphysema, Wide nasal bridge, Respiratory ... ORPHA:500150
Restrictive Dermopathy
Aplasia/Hypoplasia involving the nose, Pulmonary hypoplasia, Choanal atresia ORPHA:1662
Steinert Myotonic Dystrophy
Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular systolic dysfunction, Res... ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Dyspnea, Bulbous nose, Respiratory failure, Long nose, Prominent nose ORPHA:2636
Paroxysmal Nocturnal Hemoglobinuria
Abnormal bleeding, Angina pectoris, Pulmonary embolism, Myocardial infarction, Pulmonary arterial... ORPHA:447
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiogenic shock, Reduced... ORPHA:75565
Behçet Disease
Pleuritis, Pericarditis, Aortic regurgitation, Gastrointestinal hemorrhage, Pleural effusion, Pul... ORPHA:117
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Pallister-Killian Syndrome
Short nose, Stillbirth, Hyperventilation, Wide nasal bridge, Aortic valve stenosis, Pulmonary hyp... OMIM:601803
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Telangiectasia of the ... ORPHA:2092
Holoprosencephaly
Arrhythmia, Choanal atresia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Aplasia/... ORPHA:2162
Neuroleptic Malignant Syndrome
Arrhythmia, Hypotension, Hypertensive crisis, Hypertension, Pulmonary embolism, Tachycardia, Aspi... ORPHA:94093
Classic Homocystinuria
Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Cerebral ... ORPHA:394
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Wide nasal bridge ORPHA:280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Respiratory distress, Subdural hemorrhage, Pulmonary embolism, Pulmonary ... ORPHA:79282
Microphthalmia, Syndromic 1
Pulmonary hypoplasia OMIM:309800
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Sudden cardiac death, Pulmonary embolism, Neoplasm of ... ORPHA:744
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension ORPHA:3202
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal bleeding, Epistaxis, Hypertension, Pulmonary venous hypertension, Menorrhagia, Prolonged... ORPHA:79259
Angioosteohypertrophic Syndrome
Pulmonary embolism, Congestive heart failure, Gastrointestinal hemorrhage, Telangiectasia of the ... ORPHA:2346
Familial Chylomicronemia Syndrome
Pulmonary embolism ORPHA:444490

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 Wnt7b

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 Wnt7b.

No publications found that use IMPC mice or data for Wnt7b.

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MGI Allele Allele Type Produced
Wnt7btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wnt7btm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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