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.

The table below shows human diseases associated to Wnt7b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470

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
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:245650
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood OMIM:253300
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal r... OMIM:619003
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr... OMIM:614096
Immunodeficiency 95
Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in... OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Pulmonary arterial hypertension, Death in infancy, Neona... OMIM:265120
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis OMIM:601612
Tracheal Agenesis
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:3346
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections, N... OMIM:608647
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Recurrent upper respiratory tract infections, Desquamative interstitial pneu... OMIM:263000
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Recurrent respiratory infections, Hypertension, Pulmonary fibrosis ORPHA:2111
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Pulmonary arterial hypertension, Pulmonary venous occlusion, In... OMIM:265450
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Bradycardia, Tachycardia, Cardiac arrest, Hypotension, Respiratory ... ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Petechiae, Interstitial pneumonitis, Vasculitis in the skin, Recurrent upper respiratory... OMIM:620296
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu... OMIM:610913
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... ORPHA:132
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension OMIM:267430
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneumonia ORPHA:90117
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Right ventricular fa... ORPHA:2302
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure, Lipoid pneumonia, Hypertrophic cardiomyopathy OMIM:620326
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Atelosteogenesis, Type Ii
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Death in infancy OMIM:256050
Nephronophthisis 2
Pulmonary insufficiency, Respiratory insufficiency, Hypertension, Pulmonary hypoplasia, Respirato... OMIM:602088
Distal Duplication 14Q
Abnormal lung lobation ORPHA:1705
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Pneumocystosis
Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf... ORPHA:723
Acute Interstitial Pneumonia
Atelectasis, Peribronchovascular interstitial thickening, Hypertension, Pleural effusion, Bronchi... ORPHA:79126
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in ... OMIM:618042
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Usu... OMIM:178500
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis OMIM:615294
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Pulmonary hypoplasia OMIM:616733
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Respiratory f... ORPHA:178320
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory insufficienc... ORPHA:254875
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Heart murmur, Pulmonary fibrosi... ORPHA:99931
Bronchopulmonary Dysplasia
Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Pulmonary sequestrati... ORPHA:70589
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Mitral stenosis, Pulmonary hypoplasia, Palpitations, Neonatal respirator... ORPHA:2847
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... ORPHA:79
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:1548
Primary Pulmonary Hypoplasia
Pneumothorax, Recurrent respiratory infections, Pulmonary hypoplasia, Neonatal respiratory distre... ORPHA:2257
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension OMIM:234810
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Stillbirth, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic ... OMIM:615415
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Vasculitis, Hypotension, Pneumonia, Respiratory failure, Shock ORPHA:70578
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia OMIM:224410
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:609981
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:236500
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1046
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Death in infancy OMIM:241800
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Pericarditis, Pulmonary fibrosis, Pneumonia, Respiratory ... ORPHA:449280
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Nasal polyposis, Bronchiectasis, Recurrent sinusitis, Pneumonia OMIM:618695
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Myocardial infarction, Abnormal onset of bleeding ORPHA:3325
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Congestive heart failure OMIM:616794
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Peribronchovascular interstitial thickening, Nasal polypos... ORPHA:244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia OMIM:617895
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Thanatophoric Dysplasia
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:2655
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia ORPHA:139466
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:187600
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Congestive heart failure OMIM:616866
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Intracranial hemorrhage, Respiratory failure, Recurrent respiratory infe... ORPHA:3226
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory insufficiency, Left ventricular o... ORPHA:308552
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Neonatal respiratory distress, Miscarriage, Pulmonary hypop... ORPHA:96179
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Lymphatic Malformation 12
Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory tract infections,... OMIM:620014
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:994
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Congestive heart failure, Heart block, Pulmonary sequestration, ... ORPHA:185
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Heart block, Reduced left ventricular ejection fraction, Capillary leak, Pleural... ORPHA:542323
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure OMIM:614399
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Respiratory insufficiency, Pulmonary artery atresia, Pulmonic stenosis, ... OMIM:601186
Afibrinogenemia, Congenital
Hematemesis, Abnormal bleeding, Death in childhood, Epidural hemorrhage, Gingival bleeding, Death... OMIM:202400
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Respiratory insufficiency, Tricuspid regurgitation, Death in infancy, Ano... ORPHA:1120
Snakebite Envenomation
Abnormal bleeding, Gingival bleeding, Cerebral ischemia, Hypotension, Cardiogenic shock, Epistaxi... ORPHA:449285
Alg3-Cdg
Cardiomyopathy, Pulmonary hypoplasia ORPHA:79321
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Left ve... ORPHA:99050
Jeune Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:474
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Congenital Tracheomalacia
Pneumothorax, Emphysema, Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectas... ORPHA:95430
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Respirato... OMIM:616037
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Niemann-Pick Disease, Type C2
Death in childhood, Respiratory insufficiency, Death in infancy, Pulmonary fibrosis, Respiratory ... OMIM:607625
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pulmonary hypoplasia, Bilate... OMIM:611812
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary hypoplasia, Recurrent respiratory infections, Pulmonary artery atresia OMIM:618316
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Chylothorax, Death in infancy, Cerebral hemorrhage, Respiratory failure, Subd... OMIM:620278
Mercury Poisoning
Hypertension, Interstitial pneumonitis, Hypotension, Tachycardia, Respiratory failure ORPHA:330021
Avian Influenza
Pneumothorax, Congestive heart failure, Miscarriage, Pleural effusion, Pneumonia, Respiratory fai... ORPHA:454836
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Pulmonary hypoplasia, Heart murmur, Re... ORPHA:3309
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Hypertension, Portal hypertension, Neonatal death, Pulmonary hypoplasia OMIM:263200
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia OMIM:314390
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Abnorma... ORPHA:199241
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Subpleural interstitial thickening, Respiratory insufficiency, ... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Hypertrophic cardiomyopathy, Death in infancy OMIM:619386
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Interlobular septal thickening OMIM:614370
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hyperekplexia 4
Respiratory failure OMIM:618011
Meacham Syndrome
Stillbirth, Death in childhood, Cardiac total anomalous pulmonary venous connection, Scimitar ano... OMIM:608978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy OMIM:616897
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure ORPHA:370968
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Elevated right atrial pressure, Hypertension, Pulmonary arteri... OMIM:178600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections ORPHA:2759
Agnathia-Otocephaly Complex
Pulmonary hypoplasia OMIM:202650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Bidirectional shunt, Pulmonary hypoplasia, El... OMIM:619351
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Miscarriage, Pulmonary hypoplasia ORPHA:1865
Kagami-Ogata Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:608149
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Neonatal death, Res... OMIM:605711
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Pulmonary Arteriovenous Malformation
Ischemic stroke, Abnormal bleeding, Myocardial infarction, Pleural empyema, Transient ischemic at... ORPHA:2038
Multiple Pterygium Syndrome, X-Linked
Pulmonary hypoplasia OMIM:312150
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Intraventricular hemorrhage, Bronchitis, Neonatal asp... ORPHA:420741
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Tricuspid regurgitation OMIM:620306
Meckel Syndrome 14
Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiorespiratory arrest, Mitral reg... OMIM:619879
Malignant Atrophic Papulosis
Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Telangiectasia of the ... ORPHA:679
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Respiratory insufficiency, Internal hemorr... ORPHA:90308
Familial Isolated Restrictive Cardiomyopathy
Pulmonary edema, Atrial fibrillation, Supraventricular arrhythmia, Hypertrophic cardiomyopathy, T... ORPHA:75249
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia OMIM:231680
Absence Of The Pulmonary Artery
Pulmonary edema, Congestive heart failure, Atrial flutter, Reduced left ventricular ejection frac... ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia OMIM:151210
Multiple Pterygium Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:253290
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:276950
Diaphanospondylodysostosis
Respiratory insufficiency, Pulmonary hypoplasia OMIM:608022
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Pulmonary arterial hypertension, Cardiorespiratory arrest,... ORPHA:228116
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Achondrogenesis
Aplasia/Hypoplasia of the lungs ORPHA:932
Proximal Spinal Muscular Atrophy
Bradycardia, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Re... ORPHA:70
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:70472
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy, Respiratory failure, Di... OMIM:614299
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:1263
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Reduced left ventricular ejection frac... ORPHA:258
Gaucher Disease, Perinatal Lethal
Petechiae, Purpura, Neonatal death, Pulmonary hypoplasia OMIM:608013
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Death in childhood, Cardiomyopathy, Death in infancy, Neonatal death, Respiratory fai... OMIM:614922
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure OMIM:615330
Congenital Myopathy 10B, Mild Variant
Respiratory failure, Recurrent pneumonia OMIM:620249
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Respiratory failure, Cardiomyopathy ORPHA:445038
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension OMIM:619483
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Ar... ORPHA:352447
Caudal Regression Syndrome
Hypertension, Pulmonary hypoplasia ORPHA:3027
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology ORPHA:2570
Congenital Myopathy 17
Respiratory insufficiency, Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Systolic heart murmu... ORPHA:555874
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress ORPHA:168486
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Death in infancy, Arrhythmia, Respiratory ... ORPHA:1194
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hypoplasia, Pulmonary hy... OMIM:620025
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Respiratory insufficiency, Death in infancy, Pulmonary hypoplasia, Recur... OMIM:208500
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs ORPHA:93298
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Pulmonary venous hypertension, Irregular sept... ORPHA:90060
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs ORPHA:2635
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Pulmonary arterial ... ORPHA:209905
Meckel Syndrome, Type 6
Pulmonary hypoplasia, Bilobed right lung OMIM:612284
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Respiratory failure, Recurrent respiratory infections ORPHA:98905
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:618186
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Thanatophoric Dysplasia Type 2
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:93274
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs ORPHA:93299
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Renal Agenesis
Hypertension, Pulmonary hypoplasia ORPHA:411709
Cutis Laxa, Autosomal Recessive, Type Ic
Death in childhood, Emphysema, Atelectasis, Death in infancy, Recurrent pneumonia, Pulmonary hypo... OMIM:613177
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:958
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Pulmonary edema, Melena, Palpitations, Petechiae, Capillary leak, Tachycardia, Hyper... ORPHA:340
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Alg1-Cdg
Respiratory failure, Cardiomyopathy ORPHA:79327
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Atelectasis OMIM:269860
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Pulmonary hypoplasi... OMIM:601559
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia OMIM:619708
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Arrhythmia, Abnormality of t... ORPHA:991
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Cardiomyopathy, Respiratory insufficiency due to muscle weakness, Arrhy... OMIM:310200
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia OMIM:616300
Oligomeganephronia
Pulmonary venous occlusion, Hypertension, Pulmonary hypoplasia ORPHA:2260
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Hypertension ORPHA:363400
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Respiratory insufficiency, Pulmonary artery atresia, Retinal hemorrhage, Tricuspid r... OMIM:620371
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Leigh Syndrome
Respiratory insufficiency, Respiratory failure OMIM:256000
Acrocephalopolydactylous Dysplasia
Pulmonary hypoplasia, Extrapulmonary lobar sequestration OMIM:200995
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Achondroplasia
Pulmonary hypoplasia, Death in infancy OMIM:100800
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Death in childhood, Pulmonary hypoplasia OMIM:214100
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Neonatal death, Pulmonary hypoplasia, Portal hypertension OMIM:208540
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Geleophysic Dysplasia 3
Pneumonia, Respiratory failure, Mitral regurgitation OMIM:617809
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Subdural hemorrhage OMIM:618291
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:2990
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu... OMIM:618278
Distal Triplication 15Q
Pulmonary hypoplasia ORPHA:314588
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia OMIM:617022
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion ORPHA:3015
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Pulmonary hypoplasia OMIM:619148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure OMIM:606612
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Repeated pneumothoraces, Respiratory insufficiency, Pulmonary hypoplasia, Bruising s... ORPHA:536467
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely r... ORPHA:444013
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Respiratory failure, Pulmonary arterial hypertension OMIM:613845
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs ORPHA:2063
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Left ventricular outflow tract obstruction, Vasculitis, T... ORPHA:365
Raine Syndrome
Neonatal death, Pulmonary hypoplasia, Death in infancy OMIM:259775
Genitopatellar Syndrome
Pulmonary hypoplasia ORPHA:85201
Boutonneuse Fever
Petechiae, Respiratory failure, Vasculitis ORPHA:83313
Joubert Syndrome 21
Respiratory failure, Pulmonary hypoplasia OMIM:615636
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Pulmonary edema, Abnormal bleeding, Fourth heart sound, Prolo... ORPHA:57777
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Aortic regurgitation, Pulmonary artery atresia, Pulmonar... ORPHA:3384
Mosaic Trisomy 1
Pulmonary hypoplasia, Pulmonary artery atresia ORPHA:1692
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Dilated cardiomyopathy OMIM:607598
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory failure, Neonatal death, Congestive heart failure, Pulmonary arterial hypertension OMIM:616482
Lymphoid Interstitial Pneumonia
Bronchiectasis, Respiratory tract infection, Raynaud phenomenon, Pulmonary fibrosis, Multiple pul... ORPHA:79128
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Ventilator dependence with inability to wean OMIM:604320
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure OMIM:156530
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure OMIM:250940
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Respiratory insufficiency, Arrhythmia, Respiratory failure, Dilated car... OMIM:609015
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Pleural effusion OMIM:620369
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Death in infancy, Arrhythmia, Resp... OMIM:608836
Prune Belly Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:2970
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Atelectas... OMIM:615067
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia ORPHA:496641
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure ORPHA:98913
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Syncope, Transi... ORPHA:99104
Greenberg Dysplasia
Abnormal lung lobation, Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:215140
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Fryns Syndrome
Pulmonary hypoplasia ORPHA:2059
Triosephosphate Isomerase Deficiency
Congestive heart failure, Respiratory insufficiency, Death in adolescence, Death in infancy, Resp... OMIM:615512
Thanatophoric Dysplasia Type 1
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs ORPHA:1860
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypertension, Portal hypertension, Spontaneous pneumothorax, Recurre... ORPHA:731
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia OMIM:614080
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:616503
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Pulmonary hypoplasia OMIM:308050
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Tricuspid regurgitation, Arr... ORPHA:746
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs ORPHA:2549
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Infracardiac total anomalous pulmonary venous... ORPHA:99125
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Bilateral lung agenesis OMIM:618021
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Pulmonary hypoplasia OMIM:265000
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pericarditis, Pneumonia, Respiratory failure ORPHA:31204
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Neu-Laxova Syndrome
Pulmonary hypoplasia ORPHA:2671
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Fontaine Progeroid Syndrome
Pneumothorax, Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Tricu... OMIM:612289
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Cardiomyopathy, Cardiorespiratory arrest, Arrhythmia, Respiratory failure ORPHA:26791
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... ORPHA:99103
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory failure, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weaknes... OMIM:220110
Vacterl With Hydrocephalus
Pulmonary hypoplasia ORPHA:3412
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Pneumonia, Respiratory t... ORPHA:79138
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia OMIM:271520
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness OMIM:606071
Bloom Syndrome
Bronchitis, Respiratory tract infection, Pneumonia, Respiratory failure, Telangiectasia ORPHA:125
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia OMIM:616546
Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Aortic valve stenosis, Pulmonary hypoplasia, Pulmonic stenosis ORPHA:536471
Meier-Gorlin Syndrome 7
Heart block, Pulmonary hypoplasia, Second degree atrioventricular block OMIM:617063
Idiopathic Steroid-Resistant Nephrotic Syndrome
Pulmonary embolism, Respiratory tract infection ORPHA:567548
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia, Tricuspid regurgitation OMIM:263520
Alg9-Cdg
Abnormal lung lobation, Pulmonary hypoplasia, Tricuspid regurgitation ORPHA:79328
Esophageal Atresia
Bronchitis, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:1199
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Ogden Syndrome
Pulmonary edema, Supraventricular tachycardia, Pulmonary arterial hypertension, Premature ventric... OMIM:300855
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Miscarr... OMIM:187300
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Tarp Syndrome
Pulmonary hypoplasia ORPHA:2886
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Respiratory failure, Cardiomyopathy ORPHA:88618
Tetraamelia-Multiple Malformations Syndrome
Abnormal lung lobation, Aplasia/Hypoplasia of the lungs ORPHA:3301
Meacham Syndrome
Abnormal lung lobation, Pulmonary sequestration, Aortic valve stenosis, Anomalous pulmonary venou... ORPHA:3097
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Prolonged prothrombin time, Hypertrophic cardiomy... OMIM:618329
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in childhood OMIM:617186
Listeriosis
Myocarditis, Congestive heart failure, Arteritis, Miscarriage, Pericarditis, Pneumonia, Respirato... ORPHA:533
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Death in i... OMIM:610505
Fryns Syndrome
Chylothorax, Stillbirth, Pulmonary hypoplasia OMIM:229850
Rajab Interstitial Lung Disease With Brain Calcifications 1
Abnormal pulmonary interstitial morphology, Emphysema, Respiratory insufficiency, Portal hyperten... OMIM:613658
Dpagt1-Cdg
Pulmonary hypoplasia, Prolonged QT interval, Intracranial hemorrhage ORPHA:86309
Poliomyelitis
Respiratory failure requiring assisted ventilation, Hypertension, Hypovolemic shock, Hypotension,... ORPHA:2912
Tetraamelia Syndrome 1
Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia OMIM:273395
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia OMIM:200980
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs ORPHA:1834
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Pulmonary artery steno... ORPHA:96334
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Respiratory failure, Recu... ORPHA:2020
Lethal Acantholytic Erosive Disorder
Respiratory failure, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility ORPHA:158687
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract infections OMIM:226300
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Tuberous Sclerosis Complex
Hypertension, Internal hemorrhage, Respiratory tract infection, Respiratory failure, Pulmonary ly... ORPHA:805
Infantile Krabbe Disease
Respiratory failure, Abnormal heart rate variability ORPHA:206436
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:2753
Nijmegen Breakage Syndrome
Respiratory failure, Recurrent respiratory infections, Recurrent pneumonia, Recurrent sinopulmona... ORPHA:647
Cardiac-Urogenital Syndrome
Scimitar anomaly, Pulmonary hypoplasia, Partial anomalous pulmonary venous return, Tachycardia, P... OMIM:618280
Distal Deletion 15Q
Mitral stenosis, Pulmonary hypoplasia ORPHA:1596
Polycythemia Vera
Gastrointestinal hemorrhage, Respiratory insufficiency, Angina pectoris, Hypertension, Gingival b... ORPHA:729
Fetal Akinesia Deformation Sequence 1
Stillbirth, Pulmonary hypoplasia OMIM:208150
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Hypertension, Hypertrophic cardiomyopathy, Death in infancy, Ventricular ... OMIM:270400
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:818
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure ORPHA:3240
Osteogenesis Imperfecta
Aortic regurgitation, Pulmonary hypoplasia, Cerebral hemorrhage, Bruising susceptibility, Neonata... ORPHA:666
Restrictive Dermopathy 1
Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:275210
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... ORPHA:99827
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Death in infancy, Respiratory arrest, Neonatal death, Respiratory failure OMIM:617248
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory failure, Pulmonary hypoplasia ORPHA:3404
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pleural effusion, Pulmonary embolism, Hypertension, Respiratory tract infection ORPHA:567546
Leigh Syndrome
Respiratory failure, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:506
Neu-Laxova Syndrome 1
Stillbirth, Neonatal death, Pulmonary hypoplasia OMIM:256520
Amyotrophic Lateral Sclerosis
Respiratory failure ORPHA:803
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Bradycardia, Pneumonia, Respiratory failure, Dilated cardiomyopathy ORPHA:79404
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure OMIM:617301
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Left ventricular ... ORPHA:3092
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Respiratory failure OMIM:259720
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Arterial rupture, Spontaneous ... OMIM:130050
Tetrasomy 9P
Pericarditis, Pulmonary hypoplasia, Raynaud phenomenon, Pulmonary arterial hypertension ORPHA:3310
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pulmonary arterial h... OMIM:615343
Penile Agenesis
Pulmonary hypoplasia, Bilateral lung agenesis ORPHA:49
Costello Syndrome
Pneumothorax, Respiratory insufficiency, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythm... OMIM:218040
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, D... OMIM:252010
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs ORPHA:887
Niemann-Pick Disease Type C
Respiratory insufficiency, Respiratory failure, Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Schinzel-Giedion Syndrome
Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Meckel Syndrome, Type 1
Pulmonary hypoplasia OMIM:249000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... ORPHA:97292
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia ORPHA:83617
Hereditary Hemorrhagic Telangiectasia
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Congestive heart failu... ORPHA:774
Fraser Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Death in infancy ORPHA:2052
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Telangiectasia of the skin, Aplasia/Hypoplasia of the l... ORPHA:2092
Abetalipoproteinemia
Prolonged prothrombin time, Respiratory failure, Abnormal bleeding, Congestive heart failure ORPHA:14
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Emphysema, Transient ischemic attack, Unilateral lung agenesis, Respiratory failure ORPHA:500150
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Respiratory insufficiency, Pulmonary hypoplasia ORPHA:93271
Restrictive Dermopathy
Pulmonary hypoplasia ORPHA:1662
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Left ventricular systolic dysfunction, Respir... ORPHA:273
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Holoprosencephaly
Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Arrhythmia ORPHA:2162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Myhre Syndrome
Respiratory insufficiency, Respiratory failure, Hypertension, Aortic valve stenosis OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Respiratory failure, Dilated ca... ORPHA:2556
Genitopatellar Syndrome
Pulmonary hypoplasia OMIM:606170
Fraser Syndrome 2
Respiratory failure OMIM:617666
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs ORPHA:280
Pallister-Killian Syndrome
Aortic valve stenosis, Stillbirth, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:601803
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Respiratory failure, Stillbirth OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Zttk Syndrome
Unilateral lung agenesis, Aortic regurgitation OMIM:617140
Craniofacial Microsomia 1
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 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.

Order Mouse and ES Cells

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

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