Gene Summary

Name:
Obg-like ATPase 1
Synonyms:
2510025G09Rik,  2810405J23Rik,  Gtpbp9,  2810409H07Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ola1em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Ola1em1(IMPC)Bay HOM E18.5 0.00
abnormal placenta size Ola1em1(IMPC)Bay HOM E18.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Ola1 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 Ola1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Pyknoachondrogenesis
Stillbirth OMIM:265880
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumul... OMIM:265120
Cyanosis And Hepatic Disease
Cyanosis, Hepatitis, Dyspnea OMIM:219400
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Leukocytosis, Hypoxemia, Bronchial... ORPHA:1302
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxy... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Intrauterine growth retardation, Hypoxemia, Asthma, Abn... ORPHA:2257
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Congenital Pulmonary Lymphangiectasia
Cyanosis, Splenomegaly, Pleural effusion, Growth delay, Cough, Pulmonary arterial hypertension, H... ORPHA:2414
Cyanosis, Transient Neonatal
Cyanosis, Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Ta... ORPHA:79126
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis, Respiratory distress OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory failure requiring assisted ventilation, Hypoxemia, Fa... ORPHA:264675
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Obesity, Bronchiolitis, Respiratory distress OMIM:615993
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hepatic steatosis, Intrauterine growth retardation, Respiratory distress ORPHA:26792
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Respiratory distress ORPHA:91130
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Failure to thrive, Hyperven... ORPHA:91359
Gaucher Disease Type 2
Splenomegaly, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory infecti... ORPHA:77260
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Intrauterine growth retardation, Respiratory distress, Dyspnea ORPHA:1832
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Coenzyme Q10 Deficiency, Primary, 8
Intrauterine growth retardation, Small for gestational age, Respiratory distress, Postnatal growt... OMIM:616733
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Elevated hepatic transaminase, Cirrho... OMIM:613490
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Failure to thrive, Respiratory distress, Thr... OMIM:615597
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Severe short stature, Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Meconium Aspiration Syndrome
Hypoxemia, Intrauterine growth retardation, Atelectasis, Pulmonary arterial hypertension, Neonata... ORPHA:70588
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Decreased body weight, Respiratory insufficiency due to muscle weakness, Respirato... OMIM:300580
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet ... ORPHA:238459
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Leukopenia, Leukocytosis, Neut... ORPHA:36238
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Abnormal erythrocyte morphology ORPHA:71277
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Cyanosis, Respiratory ... ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Stt3B-Cdg
Failure to thrive, Thrombocytopenia, Intrauterine growth retardation, Respiratory distress ORPHA:370924
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Failure to thrive in infancy, Respiratory failure, Respiratory insufficiency... ORPHA:254875
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Failure to thrive, Respiratory distress, Res... OMIM:614399
Perching Syndrome
Respiratory distress OMIM:617055
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Hepatosplenomegaly, Portal hypertension, Abnormal breath sound, C... ORPHA:210136
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary ve... ORPHA:199241
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Pancytopenia, Reticular pattern on pulmonary HRCT, Crackles, Usual int... OMIM:614742
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Growth delay, Exertional dyspnea, Polycythemia, Methemoglobinemia OMIM:250800
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Intrauterine growth reta... ORPHA:555874
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Death in adolescence, Respiratory failure, Sple... OMIM:615512
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Cyanosis, Recurrent upper respiratory trac... ORPHA:95430
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Hepatomegaly, Respi... ORPHA:254864
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Neoplasm of the lung, Stridor, Upper airway obstruction, Respiratory distress, We... ORPHA:142
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Sepsis In Premature Infants
Cyanosis, Abnormal respiratory system physiology, Petechiae, Leukocytosis, Decreased body weight,... ORPHA:90051
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatosplenomegaly, Intrauterine growth retardation, Decreased body weight, Hepatic fa... OMIM:608013
Malaria
Anemia, Thrombocytopenia, Respiratory distress ORPHA:673
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Pulmonary hemorrhage, Cough, Dyspnea, Pulmonary arterial hyperten... ORPHA:2038
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Leukopenia, Tachypnea, Respiratory failure, Pleural ef... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Respiratory distress, Pancrea... ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Respiratory distress ORPHA:261304
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Recurrent respiratory infections, Upper... ORPHA:137914
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Leukocytosis, ... ORPHA:2902
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Dyspnea, Respiratory distress, Methemoglobinemia ORPHA:464453
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, Red... ORPHA:98913
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Pancreatitis, Thrombocytop... ORPHA:289916
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Leukodystrophy, Hypomyelinating, 17
Short stature, Respiratory distress OMIM:618006
Mitochondrial Complex I Deficiency, Nuclear Type 35
Intrauterine growth retardation, Neonatal death, Pulmonary arterial hypertension, Neonatal respir... OMIM:619003
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalveolar lavage fluid lymph... OMIM:612387
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Elevated hepatic transaminase, Respiratory distress OMIM:615042
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Succinic Acidemia
Respiratory distress OMIM:600335
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Decreased liver function, He... ORPHA:367
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Leukocytosis, Hypoxemia, Increased DLCO, Rest... ORPHA:90060
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Exertional dyspnea, Small for gestational age ORPHA:621
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Chitayat Syndrome
Tracheomalacia, Recurrent respiratory infections, Short stature, Respiratory distress, Abnormal p... OMIM:617180
Congenital Disorder Of Glycosylation, Type Ie
Splenomegaly, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Respiratory distres... OMIM:608799
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Paroxysmal dyspnea, Respiratory failure, Failure to thrive, Stridor ORPHA:444013
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Small for gestational age, Tachypnea, Hepatomegaly, Failure to thrive, Anoma... ORPHA:860
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Interstitial Lung And Liver Disease
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:615486
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Recurrent respiratory infections, Failure to thrive, R... ORPHA:3309
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular patter... ORPHA:99931
Tularemia
Leukocytosis, Pneumonia, Pleural effusion, Cough, Anemia, Respiratory distress, Thrombocytopenia ORPHA:3392
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Respiratory distress ORPHA:89844
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Jaundice, Hepatic periportal necrosis, Respiratory distress, Neo... OMIM:231680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction ORPHA:100057
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic steatosis, Hepatic failure, Hepatomegaly, Apnea OMIM:261680
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Crackles, Tachypnea, Hepatomegaly, Elevated pulmonary artery press... ORPHA:1329
Congenital Myasthenic Syndrome
Cyanosis, Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infections, O... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Central sleep apnea, Episodic respiratory distress, Recurrent respiratory infections, O... ORPHA:98914
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Small for gestational age, Neonatal respiratory ... OMIM:260400
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Subpleural interstitial thickening, Crackles, Respirat... ORPHA:79128
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Congenital Laryngeal Web
Short stature, Stridor, Respiratory distress ORPHA:2374
Q Fever
Abnormality of the liver, Pneumonia, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Pleural eff... ORPHA:781
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Holocarboxylase Synthetase Deficiency
Tachypnea, Growth delay, Respiratory distress, Thrombocytopenia, Weight loss ORPHA:79242
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Umbilical hernia, Prolonged neonatal jaundice, Respiratory distress ORPHA:226313
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Diaphanospondylodysostosis
Tracheomalacia, Intrauterine growth retardation, Abnormal liver lobulation, Disproportionate shor... OMIM:608022
Odontochondrodysplasia 1
Mesomelic short stature, Short stature, Recurrent respiratory infections, Respiratory distress, D... OMIM:184260
Farber Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hepatic failure, Intrahepatic c... ORPHA:333
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Pleural e... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly, Exertional dyspn... OMIM:220110
Double Outlet Right Ventricle
Cyanosis, Tachypnea, Failure to thrive, Short stature, Pulmonary artery atresia ORPHA:3426
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Small for gestational age, Episodic tachypnea, Obesity, Tachypnea, Hepatomegaly, Overw... ORPHA:26793
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Encephalopathy, Ethylmalonic
Acrocyanosis, Failure to thrive, Petechiae, Death in infancy OMIM:602473
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Recurrent respiratory infections, Stridor, Respiratory distre... OMIM:211530
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Thrombocytopenia, Cutis ma... ORPHA:3260
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Spina bifida, Inspiratory stridor, Cervical myelopathy OMIM:207950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Respiratory distress OMIM:618426
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Elevated hepatic transaminase,... ORPHA:329178
Esophageal Atresia
Cyanosis, Restrictive ventilatory defect, Failure to thrive in infancy, Small for gestational age... ORPHA:1199
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Abnormal respiratory system physiology, Airway obstruction, Tachypnea, Pulmonary artery... ORPHA:99106
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Leukopenia, Splenomegaly, Hepatomegaly, Death in childhood, Neutropenia, Rec... OMIM:617303
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Elevated circulating alanine aminotransferase... ORPHA:308552
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Sinusitis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Asthma, Urticaria,... ORPHA:183
Hypoglossia With Situs Inversus
Polysplenia, Upper airway obstruction, Asplenia, Respiratory distress OMIM:612776
Odontochondrodysplasia
Death in infancy, Short stature, Respiratory distress ORPHA:166272
Goodpasture Syndrome
Cyanosis, Restrictive ventilatory defect, Reticular pattern on pulmonary HRCT, Increased DLCO, Cr... OMIM:233450
Eosinophilic Fasciitis
Weight loss, Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Erythema, Abnormal pleura morphology, Cough, Neutropenia, Recurre... ORPHA:537
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Neutrophilia, Splenomegaly, Hepatomegaly, Pulmonary fibrosis, Respi... OMIM:612852
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Respiratory distress, Thrombo... OMIM:251110
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hepatic failure, Hepatomegaly, Sudden episodic apnea, Elevated hepatic transaminase, Re... ORPHA:159
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Dyspnea ORPHA:86812
Tarp Syndrome
Cyanosis, Intrauterine growth retardation, Failure to thrive, Apnea, Pulmonary hypoplasia, Extram... ORPHA:2886
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hepatomegaly, Respiratory distress ORPHA:927
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Growth delay, Pulmonary arterial hypertension, ... ORPHA:209905
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Short stature, Pneumonia, Growth delay ORPHA:1867
Lymphatic Malformation 7
Anemia, Respiratory distress, Pulmonary edema OMIM:617300
Arnold-Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Pneumonia, Inspiratory stridor, Apnea, Meningocele ORPHA:1136
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Apneic episodes in infancy, Episodic tachypnea, Hepatomegaly, Dyspnea, Elevate... ORPHA:348
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Respiratory distress, Thrombo... OMIM:251100
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Death in infancy, Neonatal death, Respiratory distress OMIM:300219
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Growth delay, Bronchiectasis, Hypocapnia, Rec... ORPHA:980
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Failure to thrive, Growth delay OMIM:614407
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Growth delay, Dyspnea, Failure to thrive, Respiratory distress ORPHA:2707
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Anomalous origin of right pulmonary artery from ascending aorta, Aortopulmonary window,... ORPHA:99050
Buerger Disease
Acrocyanosis ORPHA:36258
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Jaundice, Prolonged neonatal jaundice, Respiratory distress, Reticulocytosis, Mic... OMIM:274150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Congenital Tracheal Stenosis
Cyanosis, Dyspnea, Upper airway obstruction, Neonatal asphyxia, Pulmonary artery atresia, Respira... ORPHA:141127
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Ethylmalonic Encephalopathy
Acrocyanosis, Failure to thrive, Petechiae ORPHA:51188
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Splenomegaly, Thrombocytopenia, Hepatomegaly, Short stature, Prolonged neona... OMIM:225750
Renal Dysplasia-Limb Defects Syndrome
Intrauterine growth retardation, Respiratory failure, Pneumothorax, Respiratory distress, Neonata... OMIM:266910
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Short stature, Granulocytopenia, Respiratory distress, Macrocytic anemia OMIM:606164
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Growth delay, Respiratory distress OMIM:619272
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Splenic rupture ORPHA:335
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Pneumonia, Failu... ORPHA:37042
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Decreased liver function, Anemia, Failure to thrive, Respiratory distress, A... ORPHA:70474
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Urticaria, Growth delay, Hepatomegaly, Acrocyanosis, Purpura ORPHA:343
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Hepatic failure, Respiratory failure, Splenomegaly, Growth delay, Respiratory insuffici... OMIM:252010
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death OMIM:611890
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Respiratory distress OMIM:617102
Craniofaciofrontodigital Syndrome
Large for gestational age, Prominent superficial veins, Palmoplantar cutis laxa, Dyspnea, Pulmona... ORPHA:363705
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Sleep apnea, Respiratory insufficiency, Pulmonary arterial hyperte... ORPHA:98915
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Recurrent respiratory infections, Death in infancy, Episodic hypov... OMIM:301790
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Sinusitis, Pneumonia, Ecchymosis, Increased circulatin... ORPHA:36234
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia, Airway obstruction, Increased pulmonary vascular resistance, Dyspnea, Pulmon... ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Nail bed telangiectasia, Hepatic arteriovenous malformation, Telangiectasia of the ski... OMIM:187300
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Poems Syndrome
Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Pulmonary arterial hypertension... ORPHA:2905
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hepatomegaly, Respiratory distress OMIM:619383
Fucosidosis
Vascular skin abnormality, Abnormality of the gallbladder, Hepatomegaly, Failure to thrive, Acroc... ORPHA:349
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress OMIM:160900
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema ORPHA:31826
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Peritonitis, Respiratory failure, Pleural effusion, Dy... ORPHA:31204
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia, Growth delay, Short stature, Delayed puberty ORPHA:2326
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Intrauterine growth retardation, Megaloblastic anemia, Pulmonary embolism, Growth delay, Jaundice... ORPHA:79282
Myasthenia Gravis
Dyspnea, Hemolytic anemia, Hepatitis, Pure red cell aplasia, Acrocyanosis ORPHA:589
Mogs-Cdg
Apnea, Hepatosplenomegaly, Hepatomegaly, Respiratory distress, Hypoventilation, Thrombocytopenia,... ORPHA:79330
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Hemorrhagic Fever-Renal Syndrome
Petechiae, Pneumonia, Ecchymosis, Leukocytosis, Decreased body weight, Respiratory failure, Pleur... ORPHA:340
Truncus Arteriosus
Cyanosis, Intrauterine growth retardation, Pulmonary artery hypoplasia, Tachypnea, Pulmonary arte... ORPHA:3384
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Thrombocytopenia, Neutropenia, Anemia, Respiratory distress, Reticulocytos... ORPHA:2330
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Dyspnea ORPHA:439
Cryptococcosis
Pneumonia, Peritonitis, Pleural effusion, Cough, Lymphoid leukemia, Dyspnea, Respiratory distress... ORPHA:1546
Lujo Hemorrhagic Fever
Nonproductive cough, Leukopenia, Ecchymosis, Leukocytosis, Purpura, Crackles, Thrombocytopenia, A... ORPHA:319213
Radio-Renal Syndrome
Chylothorax, Severe short stature, Respiratory failure, Pleural effusion, Dyspnea, Respiratory di... ORPHA:3015
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Sleep apnea, Respiratory failure, Re... ORPHA:365
Acquired Purpura Fulminans
Acrocyanosis, Hepatic failure, Thrombocytopenia, Macular purpura ORPHA:49566
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Rodrigues Blindness
Ectodermal dysplasia, Short stature, Nasal flaring OMIM:268320
Chromosome 6Q24-Q25 Deletion Syndrome
Growth delay, Intrauterine growth retardation, Respiratory distress OMIM:612863
Diamond-Blackfan Anemia 10
Steroid-responsive anemia, Growth delay, Anemia, Short stature, Respiratory distress, Macrocytic ... OMIM:613309
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Boomerang Dysplasia
Neonatal death OMIM:112310
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Disproportionate short-trunk short stature, Tracheomalacia OMIM:156550
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Recurrent upper respiratory tract infections, Asthma, Obesity, Short stature, Obstructi... ORPHA:293987
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Conjunctival telangiectasia,... OMIM:600376
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough, Hepatomegaly, Failure to thrive, Pulmonary edema ORPHA:137675
Oromandibular Dystonia
Weight loss, Respiratory distress ORPHA:93958
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death OMIM:610127
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Bilateral trilobed lungs, Myelomeningocele, Total anomalous pulmonary venous return, He... OMIM:306955
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, Stridor, Intercostal re... ORPHA:141083
Scimitar Syndrome
Bronchogenic cyst, Pulmonary artery hypoplasia, Partial anomalous pulmonary venous return, Cough,... ORPHA:185
Meier-Gorlin Syndrome 1
Emphysema, Intrauterine growth retardation, Small for gestational age, Failure to thrive, Respira... OMIM:224690
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Intrauterine growth retardation, Pancreatic hypoplasia, Hepatomegaly, Severe B ly... ORPHA:83617
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Dravet Syndrome
Cyanotic episode ORPHA:33069
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Dermatomyositis
Cutaneous photosensitivity, Lung adenocarcinoma, Erythema, Abnormal eosinophil morphology, Respir... ORPHA:221
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in infancy, Death in childhood OMIM:245400
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Moebius Syndrome
Respiratory distress OMIM:157900
Listeriosis
Hepatic granulomatosis, Pneumonia, Cholecystitis, Peritonitis, Respiratory failure, Jaundice, Mis... ORPHA:533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Airway obstruction, Pulmonary arterial hypertension, Recurrent re... ORPHA:505248
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Intrauterine growth retardation, Small for gestational age, Pa... ORPHA:2255
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Growth delay, Hepatomegaly, Recurrent respiratory infections, Failure to thriv... ORPHA:17
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth OMIM:236500
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Eisenmenger Syndrome
Cyanosis, Abnormality of the liver, Hypoxemia, Aortopulmonary window, Increased pulmonary vascula... ORPHA:97214
Arterial Tortuosity Syndrome
Prematurely aged appearance, Respiratory failure, Dyspnea, Telangiectasia of the skin, Cardioresp... ORPHA:3342
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Familial Dysautonomia
Abnormal pleura morphology, Growth delay, Recurrent respiratory infections, Abnormality of the pe... ORPHA:1764
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pulmonary artery ... OMIM:616749
Congenital Disorder Of Deglycosylation 1
Decreased body weight, Hepatomegaly, Central sleep apnea, Recurrent respiratory infections, Eleva... OMIM:615273
Hereditary Angioedema Type 1
Dermatographic urticaria, Urticaria, Dyspnea, Inspiratory stridor, Respiratory distress ORPHA:100050
Oculopharyngodistal Myopathy 1
Restrictive ventilatory defect, Aspiration, Hypercapnia, Reduced forced vital capacity, Respirato... OMIM:164310
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory failure, Growth delay, Dyspnea, Anemia, Failure to thrive, Stridor, Pneumo... ORPHA:79404
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Supraca... ORPHA:99125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent infections due to aspiration, Growth ... OMIM:223900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Mgat2-Cdg
Respiratory distress, Failure to thrive, Impaired lymphocyte transformation with phytohemagglutin... ORPHA:79329
Japanese Encephalitis
Neutrophilia, Irregular respiration, Abnormal pattern of respiration, Respiratory paralysis, Resp... ORPHA:79139
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Spondyloepiphyseal Dysplasia Congenita
Neonatal short-trunk short stature, Cervical myelopathy, Respiratory distress, Restrictive ventil... OMIM:183900
Ear-Patella-Short Stature Syndrome
Intrauterine growth retardation, Severe short stature, Respiratory failure, Growth delay, Dyspnea... ORPHA:2554
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Short stature, Respiratory distress OMIM:300968
Cocaine Intoxication
Diffuse alveolar hemorrhage, Tachypnea, Cough, Hyperventilation, Pneumothorax, Respiratory distre... ORPHA:90068
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pn... ORPHA:536467
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Umbilical hernia, Abnormality of the pancreas, Respiratory distress ORPHA:1555
Ramos-Arroyo Syndrome
Severe short stature, Severe failure to thrive, Respiratory distress, Decreased body weight ORPHA:1051
Campomelic Dysplasia
Neonatal short-limb short stature, Apnea, Recurrent upper respiratory tract infections, Tracheoma... OMIM:114290
Prader-Willi Syndrome Due To Translocation
Intrauterine growth retardation, Obesity, Recurrent respiratory infections, Short stature, Respir... ORPHA:177907
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Unilateral Polymicrogyria
Cyanosis, Apnea, Pulmonary arteriovenous malformation, Epistaxis ORPHA:268943
Pitt-Hopkins Syndrome
Sleep apnea, Growth delay, Abnormal pattern of respiration, Failure to thrive, Hyperventilation, ... ORPHA:2896
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Spontaneous, recurrent epistaxis, Conjunctival telangiectasia, Tongue telangiectasia, D... OMIM:610655
Alternating Hemiplegia Of Childhood
Aspiration, Flushing, Failure to thrive, Respiratory distress, Apnea ORPHA:2131
Coccidioidomycosis
Eosinophilia, Abnormality of the liver, Pneumonia, Exudative pleural effusion, Peritonitis, Cough... ORPHA:228123
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Respiratory distress OMIM:217980
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Respiratory distress OMIM:610536
Biotinidase Deficiency
Apnea, Myelopathy, Hyperventilation, Respiratory distress ORPHA:79241
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Pulmonary arterial hypertension, Asplenia, Respiratory distress, Annular panc... ORPHA:210122
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Hepatomegaly, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperve... ORPHA:255210
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Auriculocondylar Syndrome
Obstructive sleep apnea, Snoring, Respiratory distress ORPHA:137888
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Adnp Syndrome
Recurrent upper respiratory tract infections, Aspiration, Truncal obesity, Short stature, Respira... ORPHA:404448
Aortic Arch Interruption
Cyanosis, Aortopulmonary window, Tachypnea, Exertional dyspnea, Respiratory distress ORPHA:2299
Leptospirosis
Pulmonary hemorrhage, Pleural effusion, Jaundice, Cough, Hepatomegaly, Hepatitis, Respiratory dis... ORPHA:509
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Postinfectious Vasculitis
Vasculitis in the skin, Viral hepatitis, Cutis marmorata, Pneumonia, Acrocyanosis, Palpable purpu... ORPHA:48435
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory acidosis, Recurrent respiratory infections, Respiratory distress, Neonatal ... OMIM:614748
Thanatophoric Dysplasia, Type I
Neonatal death OMIM:187600
Bresek Syndrome
Neonatal death ORPHA:85284
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Schinzel-Giedion Syndrome
Recurrent pneumonia, Hepatoblastoma, Failure to thrive in infancy, Neural tube defect, Myeloid le... ORPHA:798
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Prominent superficial blood vessels, Severe failure to thrive, Exertional dyspnea, Pulm... ORPHA:740
Tuberous Sclerosis Complex
Pulmonary lymphangiomyomatosis, Respiratory failure, Respiratory tract infection, Respiratory dis... ORPHA:805
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
Osteoglophonic Dysplasia
Rhizomelia, Failure to thrive, Respiratory distress OMIM:166250
Colchicine Poisoning
Leukocytosis, Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Erythema, Respiratory failure, Growth delay, Dyspnea, Failure to thrive, Re... ORPHA:2556
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Splenomegaly, Hepatomegaly, Respiratory distress OMIM:617088
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Asthma, Short stature, Respiratory distress, Apnea ORPHA:3206
Arboleda-Tham Syndrome
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory distress OMIM:616268
Aicardi-Goutières Syndrome
Cutis marmorata, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Short stature, Prolong... ORPHA:51
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress OMIM:305100
Ulbright-Hodes Syndrome
Respiratory failure, Severe intrauterine growth retardation, Pneumothorax, Respiratory distress, ... ORPHA:3404
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:619055
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Gitelman Syndrome
Iron deficiency anemia, Failure to thrive, Respiratory distress, Delayed puberty, Neoplasm of the... ORPHA:358
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Cough, Neutropenia, Anemia, Rhinit... ORPHA:95455
Primary Hyperoxaluria
Acrocyanosis, Failure to thrive, Cutis marmorata, Elevated hepatic transaminase ORPHA:416
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death OMIM:618810
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Generalized Arterial Calcification Of Infancy
Cyanosis, Failure to thrive in infancy, Pulmonary arterial hypertension, Pancreatic calcification... ORPHA:51608
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Leukemia, Growth delay, Truncal obesity, Short stat... OMIM:180849
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Cleidocranial Dysplasia
Moderately short stature, Neonatal respiratory distress, Respiratory distress OMIM:119600
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death OMIM:619167
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Doors Syndrome
Thrombocytosis, Sirenomelia, Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Ar... ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Intrauterine growth retardation, Growth delay, Short stature, Failure to thr... ORPHA:99646
Developmental And Epileptic Encephalopathy 89
Neonatal death, Death in childhood OMIM:619124
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Hepatic failure, Abnormal liver physiology, Hepatitis, Pancreatitis, Recurrent pneumonia, Recurre... ORPHA:64
Meacham Syndrome
Neonatal death, Death in infancy, Stillbirth, Death in childhood OMIM:608978
8Q24.3 Microdeletion Syndrome
Branchial cyst, Abnormal lung lobation, Exocrine pancreatic insufficiency, Intrauterine growth re... ORPHA:508488
Plague
Respiratory distress, Splenomegaly, Hepatomegaly, Acute infectious pneumonia ORPHA:707
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Recurrent upper and lower respiratory tract infections, Cyst of the ductus choledochus, Short sta... ORPHA:480880
Coffin-Lowry Syndrome
Acrocyanosis, Short stature, Decreased body weight, Cutis marmorata OMIM:303600
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Ecchymosis, Prematurely aged appearance, Poor wound healing, Acrocyanosi... ORPHA:287
Atelosteogenesis, Type I
Neonatal death, Stillbirth OMIM:108720
Raine Syndrome
Neonatal death OMIM:259775
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Failure to thrive, Pulmonary artery atresia ORPHA:216694
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Umbilical hernia ORPHA:285
Short-Rib Thoracic Dysplasia 12
Neonatal death OMIM:269860
Greenberg Dysplasia
Neonatal death, Stillbirth OMIM:215140
Pallister-Hall Syndrome
Neonatal death OMIM:146510
Visceral Steatosis, Congenital
Neonatal death OMIM:228100
Pmm2-Cdg
Impaired neutrophil chemotaxis, Abnormal subcutaneous fat tissue distribution, Failure to thrive,... ORPHA:79318
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death OMIM:617925
Fontaine Progeroid Syndrome
Neonatal death, Death in infancy OMIM:612289
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death OMIM:265380
Biliary, Renal, Neurologic, And Skeletal Syndrome
Neonatal death OMIM:619534

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 Ola1

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 Ola1.

No publications found that use IMPC mice or data for Ola1.

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MGI Allele Allele Type Produced
Ola1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ola1em1(IMPC)Bay Exon Deletion Mice
Ola1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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