banner
Genes Phenotypes Help, News, Blog

Gene: Ptges3 MGI:1929282

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
prostaglandin E synthase 3
Synonyms:
p23 cochaperone,  sid3177,  5730442A20Rik,  Tebp,  Ptges,  cPGES

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptges3 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 Ptges3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... ORPHA:2302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Facial erythema, Recurrent lower res... OMIM:620321
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Pulmonary infiltrates, Cough ORPHA:64741
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Renal Hypodysplasia/Aplasia 2
Redundant skin, Pulmonary hypoplasia OMIM:615721
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Pallor ORPHA:79283
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Developmental And Epileptic Encephalopathy 40
Lethargy, Hyaline membranes OMIM:617065
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Pulmonary hypoplas... OMIM:619003
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Respiratory insufficiency, Death in childhood OMIM:618224
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Lethargy ORPHA:1935
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... ORPHA:1303
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Pruritus, Atelectasis, Skin ulcer, Cough, Sk... ORPHA:2314
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy, Redundant neck skin, Edema OMIM:610498
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Pallor OMIM:613561
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... OMIM:619611
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Neonatal... OMIM:619751
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphede... OMIM:620014
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Cough ORPHA:163703
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Bronchiolitis OMIM:615993
Typhoid
Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Cough, Lethargy ORPHA:99745
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... OMIM:244400
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Death in childhood OMIM:618683
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... ORPHA:1302
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency, Dehydration ORPHA:28
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash ORPHA:26
Lethal Infantile Mitochondrial Myopathy
Lethargy, Neonatal respiratory distress ORPHA:254857
Evans Syndrome
Epistaxis, Dyspnea, Pallor, Lethargy, Petechiae ORPHA:1959
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Decreased ... OMIM:300580
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre... OMIM:604571
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea, Death in childhood OMIM:618225
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy ORPHA:26792
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Ascit... OMIM:617397
Glycine Encephalopathy 1
Lethargy, Death in infancy OMIM:605899
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Lujo Hemorrhagic Fever
Respiratory distress, Purpura, Maculopapular exanthema, Skin rash, Crackles, Facial edema, Perior... ORPHA:319213
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Redundant skin, Periorbital edema, Atelectasis, Recurrent pneumonia, Cutis laxa... OMIM:613177
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Lethargy ORPHA:71277
Lymphangioleiomyomatosis
Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu... ORPHA:538
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Pulmonary hypoplas... OMIM:616733
Dengue Fever
Skin rash, Epistaxis, Pruritus, Cardiorespiratory arrest, Lethargy, Ascites, Petechiae ORPHA:99828
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Emphysema, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstiti... OMIM:612387
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Cutis laxa OMIM:614100
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Dyspnea, Hypersensitivity pneumon... ORPHA:133
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood OMIM:614096
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea, Death in childhood OMIM:611523
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Apnea, Respiratory insufficiency OMIM:618228
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3032
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Thyroid Dyshormonogenesis 1
Lethargy, Dry skin OMIM:274400
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Death in childhood OMIM:615597
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy, Death in infancy, Death in childhood OMIM:619064
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy OMIM:610006
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Pallor ORPHA:276608
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Respiratory failure, Death in infancy OMIM:619386
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... OMIM:614299
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia, Polyhydramnios OMIM:617194
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios ORPHA:3033
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Cyclic Vomiting Syndrome
Lethargy, Pallor OMIM:500007
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Respiratory insufficiency OMIM:618226
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive OMIM:616974
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Discoid lupus rash, Atelectasis, Recurrent pneumonia, Air br... OMIM:306400
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Lethargy, Perioral eczema ORPHA:79242
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Cholera
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyp... ORPHA:173
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Polyhydramnios, Respiratory failure, Stillbirth, Death in childhood, Neonatal d... OMIM:614922
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Pallor ORPHA:49827
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Lethargy, Dehydration ORPHA:79312
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Polyhydramnios OMIM:616867
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
Severe Canavan Disease
Lethargy ORPHA:314911
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac... ORPHA:2257
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Lethargy, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Perching Syndrome
Respiratory distress OMIM:617055
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure... OMIM:605711
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Lung aden... ORPHA:166113
Central Diabetes Insipidus
Lethargy, Dehydration, Depression ORPHA:178029
Short-Rib Thoracic Dysplasia 12
Polyhydramnios, Edema, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal dea... OMIM:269860
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Pallor ORPHA:276556
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia, Edema OMIM:253310
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Pachyonychia Congenita
Respiratory distress, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar ker... ORPHA:2309
Meningococcal Meningitis
Neonatal respiratory distress, Skin rash, Lethargy, Petechiae, Purpura ORPHA:33475
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Oligohydramnios, Respiratory insuffic... ORPHA:536467
Succinic Acidemia
Respiratory distress OMIM:600335
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Pallor ORPHA:276575
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:370924
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Pallor ORPHA:276580
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency, Dehydration ORPHA:27
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia OMIM:615524
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Lethargy, Inspiratory stridor, Irregular respiration OMIM:604377
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Pallor ORPHA:324575
Propionic Acidemia
Apnea, Eczema, Tachypnea, Dehydration, Lethargy OMIM:606054
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary arterial hype... ORPHA:2414
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Scrub Typhus
Skin rash, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy ORPHA:83317
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Perica... ORPHA:26793
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy ORPHA:289916
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Polyhydramnios, Hydrops fetalis, Respiratory insufficiency, Pul... OMIM:255320
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Multifocal Atrial Tachycardia
Dyspnea, Lethargy, Tachypnea ORPHA:3282
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:261304
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy, Dehydration OMIM:212140
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Redundant neck skin, Stillbirth, Pulmonary hypoplasia, Neonatal death, Oligohydramnios OMIM:236500
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Lethargy, Apnea, Hyperventilation OMIM:229700
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency, Oligohydramnios OMIM:267430
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr... OMIM:607143
Ogden Syndrome
Lethargy, Pulmonary artery stenosis, Cutis laxa ORPHA:276432
Zygomycosis
Unusual skin infection, Sinusitis, Epistaxis, Periorbital edema, Pustule, Atelectasis, Pneumothor... ORPHA:73263
Thanatophoric Dysplasia
Redundant skin, Polyhydramnios, Increased nuchal translucency, Respiratory insufficiency, Pulmona... ORPHA:2655
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Pyruvate Dehydrogenase Deficiency
Dyspnea, Lethargy, Tachypnea ORPHA:765
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Respiratory arrest OMIM:600649
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Pallor OMIM:611590
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Apathy, P... OMIM:608013
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Tachypnea, Respiratory arrest, Death in infancy OMIM:201475
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Achondrogenesis Type 2
Cardiorespiratory arrest, Pulmonary hypoplasia, Edema ORPHA:93296
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Citrullinemia Type I
Lethargy, Tachypnea ORPHA:247525
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy ORPHA:95717
Riboflavin Deficiency
Lethargy OMIM:615026
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... ORPHA:3392
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy ORPHA:927
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... ORPHA:1329
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst... OMIM:617180
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
Biotinidase Deficiency
Recurrent skin infections, Skin rash, Apnea, Seborrheic dermatitis, Tachypnea, Lethargy OMIM:253260
Leukoencephalopathy With Vanishing White Matter 1
Lethargy OMIM:603896
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp... ORPHA:79128
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Tachypnea, Pulmonary arterial hypertension OMIM:614857
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Hypercalcemia, Infantile, 1
Lethargy, Dehydration OMIM:143880
Isovaleric Acidemia
Lethargy, Dehydration OMIM:243500
Malaria
Respiratory distress ORPHA:673
Chand Syndrome
Atelectasis, Dry skin ORPHA:1401
Hereditary Central Diabetes Insipidus
Lethargy ORPHA:30925
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Dehydration OMIM:251000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hyperkeratosis, Failure to thrive in infancy, Pulmonary fibrosis OMIM:612852
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Isolated Atp Synthase Deficiency
Respiratory distress, Lethargy ORPHA:254913
Classic Galactosemia
Lethargy, Ascites, Depression ORPHA:79239
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Edema, Tachypnea, Dehydration, Apathy, Pallor, Lethargy ORPHA:20
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency, Oligohydramnios OMIM:602088
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Pulmonary hypoplasia OMIM:617468
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea ORPHA:42
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Holocarboxylase Synthetase Deficiency
Lethargy, Tachypnea, Skin rash, Hyperventilation OMIM:253270
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Respiratory failure, Hydrops fetalis, Respiratory insufficiency OMIM:609015
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Necrotizing Enterocolitis
Lethargy, Ascites, Apnea, Edema ORPHA:391673
Crigler-Najjar Syndrome
Lethargy ORPHA:205
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Skin ulcer, L... ORPHA:68
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Erythema, Death in childhood, Lethargy, Cerebral edema OMIM:618321
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Histiocytoid Cardiomyopathy
Tachypnea, Pallor, Cough, Lethargy, Pulmonary edema ORPHA:137675
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Recurrent respiratory infections, Short stature, Mesomeli... OMIM:184260
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios OMIM:202650
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Apnea OMIM:210200
Susac Syndrome
Lethargy, Apathy ORPHA:838
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Skin ulcer, Dehydration, Depress... ORPHA:534
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
22Q11.2 Deletion Syndrome
Bipolar affective disorder, Acne, Polyhydramnios, Seborrheic dermatitis, Atelectasis, Asthma, Chr... ORPHA:567
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Dry skin, Depression ORPHA:99832
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Lethargy, Pallor ORPHA:263455
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Ebola Hemorrhagic Fever
Dyspnea, Lethargy, Maculopapular exanthema, Cough ORPHA:319218
Biotinidase Deficiency
Respiratory distress, Skin rash, Apnea, Lethargy, Eczematoid dermatitis, Hyperventilation ORPHA:79241
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy, Dehydration OMIM:251110
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... OMIM:612281
Renal Hypoplasia, Bilateral
Lethargy, Neonatal respiratory distress, Edema, Oligohydramnios ORPHA:97362
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy ORPHA:95716
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia, Polyhydramnios OMIM:187600
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:237300
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive OMIM:608799
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:224410
Cirrhosis, Familial
Lethargy, Ascites, Pulmonary arterial hypertension OMIM:215600
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Cerebral edema OMIM:201450
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia, Polyhydramnios, Edema of the dorsum of hands ORPHA:171430
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop... ORPHA:96179
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios ORPHA:994
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Pulmonary arterial hypertension, Failure to thrive, Respiratory distress OMIM:619272
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Maple Syrup Urine Disease
Lethargy, Cerebral edema OMIM:248600
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Polyhydramnios ORPHA:1486
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Lethargy, Ascites OMIM:617156
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cardiorespiratory arrest OMIM:212138
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios OMIM:263210
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy, Dehydration OMIM:251100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia, Oligohydramnios OMIM:615415
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... ORPHA:209905
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Apnea, Cardiorespiratory arrest OMIM:608643
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis,... ORPHA:537
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Postnatal growth retardation, Pulmonary h... ORPHA:3309
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Medulloblastoma
Neoplasm of the lung, Lethargy ORPHA:616
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Xerostomia, Lethargy ORPHA:398079
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy ORPHA:156
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Respiratory failure, Respiratory insufficiency ORPHA:746
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Lethargy, Dry skin, Depression ORPHA:90674
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Lethargy OMIM:557000
Diaphanospondylodysostosis
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Pulm... OMIM:608022
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Serkal Syndrome
Pulmonary hypoplasia, Oligohydramnios ORPHA:139466
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia OMIM:601163
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Edema, Respiratory insufficiency, Depression, Bradykinesia, Lethargy,... ORPHA:254892
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Insulinoma
Lethargy ORPHA:97279
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive ORPHA:329178
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Pulmonary hypoplasia, Oligohydramnios OMIM:616866
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pulmonary hypoplasia, Pleural effusion, Ascites OMIM:616897
Digeorge Syndrome
Bipolar affective disorder, Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia... OMIM:188400
Carnitine Palmitoyltransferase I Deficiency
Lethargy OMIM:255120
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... OMIM:615512
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint swelling, Apathy, Lethargy ORPHA:465508
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Polyhydramnios, Episodic resp... ORPHA:1199
Multiple Pterygium Syndrome, X-Linked
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:312150
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy ORPHA:2089
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Glycine Encephalopathy
Lethargy, Respiratory acidosis, Breathing dysregulation ORPHA:407
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Oligohydramnios OMIM:191830
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Pulmonary hypoplasia, Polyhydramnios OMIM:314390
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age ORPHA:226313
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Xerostomia, Lethargy ORPHA:398069
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Short stature, Small for gestational age, St... OMIM:260400
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Nonprod... ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Lethargy, Cerebral edema OMIM:252010
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios ORPHA:85166
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Encephalitis Lethargica
Lethargy, Hyperventilation ORPHA:83600
Dyssegmental Dysplasia, Silverman-Handmaker Type
Miscarriage, Pulmonary hypoplasia, Hydrops fetalis, Respiratory insufficiency ORPHA:1865
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Apathy, Lethargy ORPHA:863
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Citrullinemia Type Ii
Lethargy, Mania, Cerebral edema ORPHA:247585
Multiple Pterygium Syndrome, Lethal Type
Polyhydramnios, Pulmonary hypoplasia, Edema OMIM:253290
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Apnea ORPHA:395
Tonne-Kalscheuer Syndrome
Pulmonary hypoplasia OMIM:300978
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:367
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Hydrops fetalis, Dehydration, Pulmonary arterial hypert... ORPHA:79282
Semilobar Holoprosencephaly
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Depression, Apathy, Aspiration pneumonia, Lethargy, Abnormal pattern of respiratio... ORPHA:93924
Achondroplasia
Respiratory distress, Death in infancy, Polyhydramnios, Upper airway obstruction, Pulmonary hypop... OMIM:100800
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... OMIM:611812
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Intrauterine growth retardation OMIM:616271
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Pedal edema, Aortopulmon... ORPHA:97214
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Genetic Transient Congenital Hypothyroidism
Lethargy, Edema ORPHA:226316
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Skin rash OMIM:277380
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Lethargy, Dry skin OMIM:218700
Late-Onset Isolated Acth Deficiency
Lethargy, Dry skin ORPHA:199299
Craniofaciofrontodigital Syndrome
Respiratory distress, Short stature, Large for gestational age, Dyspnea, Pulmonary arterial hyper... ORPHA:363705
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Skin rash ORPHA:79284
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral... OMIM:601186
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... OMIM:617303
Moebius Syndrome
Respiratory distress OMIM:157900
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Seborrheic dermatitis OMIM:210210
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonary hypoplasia, Polyhydramnios OMIM:608149
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:618316
Kniest Dysplasia
Respiratory distress, Rhizomelia, Tracheomalacia, Disproportionate short-trunk short stature OMIM:156550
Osteogenesis Imperfecta, Type X
Respiratory distress, Rhizomelia, Short stature, Recurrent pneumonia, Death in childhood, Chronic... OMIM:613848
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Facial edema, Pulmonary hypoplasia, Polyhydramnios ORPHA:86822
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature OMIM:606164
Chromosome 6Q24-Q25 Deletion Syndrome
Growth delay, Intrauterine growth retardation, Respiratory distress OMIM:612863
Peroxisome Biogenesis Disorder 5A (Zellweger)
Lethargy, Palpebral edema, Death in infancy, Death in adolescence OMIM:614866
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Isolated Complex I Deficiency
Lethargy, Respiratory insufficiency ORPHA:2609
Exercise-Induced Malignant Hyperthermia
Crackles, Tachypnea, Hypocapnia, Lethargy, Dry skin ORPHA:466650
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Meckel Syndrome 14
Increased nuchal translucency, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Olig... OMIM:619879
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Birth length less than 3rd per... OMIM:224690
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia, Oligohydramnios OMIM:251230
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Erythema, Hyperkeratosis, Stillbirth, Pulmonary hypoplasia, Orthokeratosis OMIM:308050
Alg3-Cdg
Pulmonary hypoplasia ORPHA:79321
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Pulmonary hypoplasia, Dehydration, Oligohydramnios OMIM:263200
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Palmoplantar keratoderma ORPHA:1555
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon... OMIM:601559
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Edema ORPHA:90673
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Congenital Myopathy 17
Respiratory tract infection, Respiratory insufficiency, Pulmonary hypoplasia, Polyhydramnios OMIM:618975
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Meacham Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... OMIM:608978
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Rodrigues Blindness
Nasal flaring, Short stature OMIM:268320
Posterior Urethral Valve
Lethargy, Oligohydramnios ORPHA:93110
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy ORPHA:71212
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplasia, Pleural ef... OMIM:620369
Lysinuric Protein Intolerance
Lethargy, Intraalveolar phospholipid accumulation, Respiratory insufficiency ORPHA:470
Achondrogenesis, Type Ia
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Pulmonary hypoplasia OMIM:200600
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema ORPHA:79330
Citrullinemia, Classic
Lethargy, Cerebral edema OMIM:215700
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... ORPHA:90051
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... ORPHA:90068
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Postnatal growth retardation, Pulmonary hypoplasia, Intraute... ORPHA:83617
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia ORPHA:250999
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Q Fever
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Cough, ... ORPHA:781
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Severe short stature, Decreased body weight ORPHA:1051
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary... OMIM:619351
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion ORPHA:1546
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:2470
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Tachypnea ORPHA:415
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Pulmonary hypoplasia, Hydrops fetalis OMIM:614091
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea ORPHA:36234
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy, Cerebral edema OMIM:311250
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia ORPHA:3035
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Death in childhood OMIM:214100
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pulmonary infiltrates, Pulmonary fibro... ORPHA:3260
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... ORPHA:99050
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Marburg Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Nonproductive cough, Dehydration, Lethargy, Petechiae ORPHA:99826
Genitopatellar Syndrome
Apnea, Pulmonary hypoplasia ORPHA:85201
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Intrauterine grow... ORPHA:177907
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa... ORPHA:141127
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis OMIM:619708
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Oligohydramnios ORPHA:958
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Growth delay, Failure to thrive ORPHA:17
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... ORPHA:37042
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... ORPHA:79139
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Lethal Congenital Contracture Syndrome 10
Pulmonary hypoplasia, Hydrops fetalis, Oligohydramnios OMIM:617022
Argininosuccinic Aciduria
Lethargy, Cerebral edema OMIM:207900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Familial Hypoaldosteronism
Lethargy ORPHA:427
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Neonatal short-trunk short stature OMIM:183900
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive ORPHA:79329
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Atelosteogenesis Type I
Pulmonary hypoplasia, Polyhydramnios ORPHA:1190
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Polyhydramnios OMIM:615503
Diamond-Blackfan Anemia
Lethargy, Pallor, Nonimmune hydrops fetalis ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Polyhydramnios, Aortopulmonary window, Pulmonary artery hypoplasia... OMIM:620025
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Diamond-Blackfan Anemia 10
Growth delay, Short stature, Respiratory distress OMIM:613309
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Oligohydramnios ORPHA:1848
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Failure to thrive, Apnea ORPHA:2131
Marden-Walker Syndrome
Pulmonary hypoplasia OMIM:248700
Acrocephalopolydactylous Dysplasia
Ascites, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Death in infancy OMIM:208500
Neu-Laxova Syndrome
Pulmonary hypoplasia, Polyhydramnios, Lack of skin elasticity ORPHA:2671
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Apnea, Recurrent upper re... OMIM:114290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:616300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,... ORPHA:505248
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Teebi Hypertelorism Syndrome 1
Pulmonary hypoplasia OMIM:145420
Adnp Syndrome
Respiratory distress, Short stature, Recurrent upper respiratory tract infections, Truncal obesit... ORPHA:404448
Renal Agenesis
Pulmonary hypoplasia, Oligohydramnios ORPHA:411709
Restrictive Dermopathy 1
Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scaling skin, Pulmonary hypoplasia, Neonata... OMIM:275210
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia OMIM:612530
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Growth delay, Failure to thrive, Short stature, Respiratory distress OMIM:256810
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Growth delay, Stridor, Respiratory failur... ORPHA:79404
Oligomeganephronia
Pulmonary venous occlusion, Pulmonary hypoplasia, Dehydration ORPHA:2260
Mosaic Trisomy 1
Pulmonary artery atresia, Increased nuchal translucency, Pulmonary hypoplasia, Polyhydramnios ORPHA:1692
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Fontaine Progeroid Syndrome
Dermal translucency, Death in infancy, Redundant skin, Pneumothorax, Respiratory insufficiency, P... OMIM:612289
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobation,... OMIM:215140
Coccidioidomycosis
Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio... ORPHA:228123
Ogden Syndrome
Redundant neck skin, Apnea, Eczema, Redundant skin, Lymphedema, Facial wrinkling, Pulmonary arter... OMIM:300855
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Hereditary Fructose Intolerance
Lethargy ORPHA:469
Czeizel-Losonci Syndrome
Pulmonary hypoplasia ORPHA:2437
Caudal Regression Syndrome
Pulmonary hypoplasia ORPHA:3027
Renal-Hepatic-Pancreatic Dysplasia 1
Neonatal death, Pulmonary hypoplasia, Oligohydramnios OMIM:208540
Atelosteogenesis Type Ii
Tracheobronchomalacia, Pulmonary hypoplasia, Polyhydramnios ORPHA:56304
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Osteoglophonic Dysplasia
Respiratory distress, Severe short stature, Rhizomelia, Growth delay, Failure to thrive OMIM:166250
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Pulmonary hypoplasia ORPHA:2990
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation ORPHA:255210
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea, Pulmonary edema OMIM:261740
Lethal Congenital Contracture Syndrome 9
Cardiorespiratory arrest, Pulmonary hypoplasia, Polyhydramnios OMIM:616503
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Lethargy ORPHA:226307
Ethylene Glycol Poisoning
Pulmonary edema, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Distal Triplication 15Q
Pulmonary hypoplasia ORPHA:314588
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight OMIM:615273
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... ORPHA:3384
Spondylodysplastic Ehlers-Danlos Syndrome
Lymphedema, Respiratory insufficiency, Cutis laxa, Restrictive ventilatory defect, Pulmonary hypo... ORPHA:536471
Raine Syndrome
Neonatal death, Death in infancy, Pulmonary hypoplasia OMIM:259775
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Growth del... OMIM:616268
Alg9-Cdg
Pericardial effusion, Asthma, Abnormal lung lobation, Hydrops fetalis, Pulmonary hypoplasia, Olig... ORPHA:79328
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Pulmonary hypoplasia, Polyhydramnios OMIM:614080
Fryns Syndrome
Pulmonary hypoplasia, Polyhydramnios ORPHA:2059
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonary hypoplasia OMIM:619148
Listeriosis
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia ORPHA:533
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios OMIM:616546
Rubinstein-Taybi Syndrome 1
Respiratory distress, Short stature, Small for gestational age, Postnatal growth retardation, Res... OMIM:180849
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Intrauterine growth r... ORPHA:2255
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Pulmonary hypoplasia, Hydrops fetalis OMIM:265000
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Pulmonary hypoplasia, Generalized hyperke... ORPHA:1662
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Failure t... ORPHA:2556
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia, Edema, Pedal edema OMIM:236700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Acantholysis... ORPHA:95455
Tarp Syndrome
Apnea, Pulmonary hypoplasia ORPHA:2886
Multiple Endocrine Neoplasia Type 1
Lethargy, Dehydration, Depression ORPHA:652
Hydranencephaly
Lethargy ORPHA:2177
Stüve-Wiedemann Syndrome
Respiratory distress, Short stature, Apnea, Asthma, Intrauterine growth retardation ORPHA:3206
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Hydrops fetalis, Polyhydramnios ORPHA:50945
Vacterl With Hydrocephalus
Pulmonary hypoplasia, Polyhydramnios ORPHA:3412
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Pulmonary hypoplasia, Oligohydramnios OMIM:271520
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy... ORPHA:731
Glycerol Kinase Deficiency
Lethargy OMIM:307030
Gitelman Syndrome
Primary hyperaldosteronism, Failure to thrive, Respiratory distress, Delayed puberty ORPHA:358
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp... ORPHA:991
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Short stature, Neonatal respiratory distress OMIM:119600
8Q24.3 Microdeletion Syndrome
Respiratory distress, Infancy onset short-trunk short stature, Short stature, Small for gestation... ORPHA:508488
Pentalogy Of Cantrell
Pulmonary hypoplasia ORPHA:1335
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Failure to thrive, Total anomalous pulmonary venou... OMIM:306955
Fryns Syndrome
Stillbirth, Pulmonary hypoplasia, Chylothorax, Polyhydramnios OMIM:229850
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Miscarriage, Polyhydramnios, Pulmonary artery stenosis, Cutis laxa, Restrict... ORPHA:96334
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia, Oligohydramnios ORPHA:1112
Fetal Akinesia Deformation Sequence 1
Nonimmune hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Stillbirth, Pulmonary h... OMIM:208150
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Pulmonary hypoplasia OMIM:617925
Thoracoabdominal Syndrome
Pulmonary hypoplasia OMIM:313850
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy, Pulmonary hypoplasia ORPHA:798
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Paroxysmal Nocturnal Hemoglobinuria
Dyspnea, Lethargy, Pulmonary embolism ORPHA:447
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Mosaic Trisomy 16
Abnormal lung morphology, Pulmonary hypoplasia ORPHA:1708
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pulmonary hypoplasia, Hydrops fetalis OMIM:263520
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma... ORPHA:805
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Acrorenal-Mandibular Syndrome
Pulmonary hypoplasia, Oligohydramnios OMIM:200980
Otopalatodigital Syndrome Type 2
Pulmonary hypoplasia ORPHA:90652
Fructose Intolerance, Hereditary
Lethargy OMIM:229600
Pineoblastoma
Lethargy ORPHA:251909
Isolated Arrhinia
Respiratory distress ORPHA:1134
Neu-Laxova Syndrome 1
Polyhydramnios, Stillbirth, Pulmonary hypoplasia, Neonatal death, Generalized edema OMIM:256520
Smith-Lemli-Opitz Syndrome
Increased nuchal translucency, Abnormal lung lobation, Pulmonary hypoplasia, Polyhydramnios ORPHA:818
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Oligohydramnios ORPHA:2753
Meier-Gorlin Syndrome 7
Pulmonary hypoplasia OMIM:617063
Cardiac-Urogenital Syndrome
Tracheomalacia, Pericardial effusion, Partial anomalous pulmonary venous return, Pulmonary hypopl... OMIM:618280
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Growth delay, Intrauterine growth retar... ORPHA:99646
Osteogenesis Imperfecta
Neonatal respiratory distress, Pulmonary hypoplasia, Cutis laxa ORPHA:666
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Eczema, Death in infancy OMIM:270400
Dpagt1-Cdg
Anasarca, Pulmonary hypoplasia ORPHA:86309
Leptospirosis
Respiratory distress, Pleural effusion, Pulmonary hemorrhage, Cough ORPHA:509
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature OMIM:617088
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia OMIM:273395
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia, Oligohydramnios ORPHA:49
Meckel Syndrome, Type 1
Pulmonary hypoplasia, Oligohydramnios OMIM:249000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Short stature, Dela... ORPHA:480880
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Distal Deletion 15Q
Pulmonary hypoplasia ORPHA:1596
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Pulmonary hypoplasia, Hydrops fetalis, Respiratory insufficiency ORPHA:93271
Fraser Syndrome
Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2052
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
Tetrasomy 9P
Pulmonary arterial hypertension, Pulmonary hypoplasia ORPHA:3310
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy ORPHA:51608
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Alström Syndrome
Respiratory distress, Hypertriglyceridemia, Short stature, Hyperlipidemia, Chronic pulmonary obst... ORPHA:64
Genitopatellar Syndrome
Pulmonary hypoplasia, Polyhydramnios OMIM:606170
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Apneic episodes in infancy, Stillbirth, Pulmonary hy... OMIM:601803
Pmm2-Cdg
Respiratory distress, Failure to thrive, Aspiration pneumonia ORPHA:79318
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 Ptges3

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 Ptges3.

No publications found that use IMPC mice or data for Ptges3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ptges3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter