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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Skull Lateral Orientation

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
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ... OMIM:265120
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia, Umbilical hernia OMIM:254120
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis, Cyanosis OMIM:219400
Cryptogenic Organizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Hypoxemia, Nonproductive cough, Cyanosis, Crack... ORPHA:1302
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... ORPHA:50251
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... ORPHA:2302
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Death in adolescence, Neonatal death, Pulm... OMIM:619751
Immunodeficiency 95
Respiratory distress, Lymphopenia, Recurrent viral upper respiratory tract infections, Recurrent ... OMIM:619773
Primary Pulmonary Hypoplasia
Failure to thrive, Apnea, Asthma, Hypoxemia, Cyanosis, Neonatal respiratory distress, Tachypnea, ... ORPHA:2257
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Cyanosis, Cough,... ORPHA:2414
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice OMIM:613977
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive, Hepatic steatosis OMIM:615595
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Bardet-Biedl Syndrome 16
Bronchiolitis, Obesity, Respiratory distress, Recurrent respiratory infections OMIM:615993
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Recurrent upper res... ORPHA:60032
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis ORPHA:26792
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Hypox... ORPHA:79126
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cyanosis, Tachypnea, Cough, Intercostal retractions, Red... ORPHA:91359
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration, Recurre... ORPHA:77260
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Pulmonary hypoplasia, Postnatal growth retardati... OMIM:616733
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Death in childhood, Thrombocytopenia, Intrauterine growt... OMIM:615597
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, ... OMIM:178500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Short stature ORPHA:2901
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirat... ORPHA:70587
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... OMIM:613490
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness, Sh... OMIM:300580
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Slc35A1-Cdg
Respiratory distress, Neutropenia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Giant platelets... ORPHA:238459
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreas... ORPHA:747
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Hypoxemia, Nonproductive cough, Pleural empyema... ORPHA:36238
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Abnormal erythrocyte morphology ORPHA:71277
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Hereditary Methemoglobinemia
Methemoglobinemia, Exertional dyspnea, Cyanosis, Small for gestational age ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Pneumothorax, Weight loss, Respiratory failure, Interlobular septal thickening, Oxy... ORPHA:60025
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Avian Influenza
Respiratory distress, Miscarriage, Lymphopenia, Hypoxemia, Nonproductive cough, Leukopenia, Tachy... ORPHA:454836
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia, Intrauterine growth retardation ORPHA:370924
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Recurrent respiratory infec... OMIM:619466
Perching Syndrome
Respiratory distress OMIM:617055
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea OMIM:267450
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Crackles, Nodular regenerative hyperp... ORPHA:210136
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Premature graying of hair, Cirrhosis, Crackles, Aplastic anemia, Reticular pattern on pulmonary H... OMIM:614742
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Cyanosis, Exertional dyspnea, Growth delay OMIM:250800
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Elevated pulmonary artery ... ORPHA:199241
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Hepatomegaly, Small for gestational age, Cyanosis, Tachypnea, ... ORPHA:555874
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Respiratory distress, Splenomegaly, Respiratory insufficiency,... OMIM:615512
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... ORPHA:133
Restrictive Dermopathy 2
Respiratory distress, Cyanosis, Intrauterine growth retardation OMIM:619793
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... ORPHA:142
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Hepatomegaly, Petechiae, Leukocytosis, Splenomeg... ORPHA:90051
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Decreased body weight, Hepatomegaly, Petechiae, Splenomegaly, Hepati... OMIM:608013
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Pulmonary hemorrhage, Cyanosis, Iron deficiency anemia, Cough, Hypox... ORPHA:2038
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, A... ORPHA:79312
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Intrauterine growth retardation ORPHA:261304
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Acquired Methemoglobinemia
Methemoglobinemia, Respiratory distress, Cyanosis, Hypoxemia, Dyspnea ORPHA:464453
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pneumocystosis
Multiple pulmonary cysts, Nonproductive cough, Interstitial pneumonitis, Respiratory insufficienc... ORPHA:723
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Hepatomegaly, Neutropenia, Growth delay, Anemia, Thrombocytop... ORPHA:289916
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology... OMIM:612387
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure,... ORPHA:367
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress OMIM:615042
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Leukocytosis, Nonproductive cough, Generalized abnormality of skin, Crackles, Wheezing, H... ORPHA:2902
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Hepatomegaly, Hepatic failure, Cyanosis, Elevated circulating alanine aminotransferase con... OMIM:261680
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Succinic Acidemia
Respiratory distress OMIM:600335
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmonary venous hypertension,... ORPHA:90060
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Short stature, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Cyanosis, Respiratory failure, Paroxysmal dyspnea, Stridor ORPHA:444013
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Hepatomegaly, Splenomegaly, Elevated hepatic transaminas... OMIM:608799
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Anomalous pulmonary venous return, Hepatomegaly, Small for gestational age, Cy... ORPHA:860
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Tetrasomy 5P
Respiratory distress, Failure to thrive, Cyanosis, Pulmonary hypoplasia, Postnatal growth retarda... ORPHA:3309
Interstitial Lung And Liver Disease
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated ... OMIM:615486
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Cyanosis, Crackles, Elevated pulm... ORPHA:1329
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Hepatomegaly, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles,... ORPHA:99931
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Tularemia
Respiratory distress, Leukocytosis, Cough, Pleural effusion, Pneumonia, Anemia, Thrombocytopenia ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Death in childho... OMIM:220110
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Neonatal death, Pulmonary hypoplasia, Hepatic perip... OMIM:231680
Q Fever
Respiratory distress, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Abnormal pulmonary intersti... ORPHA:781
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Shwachman-Diamond Syndrome 1
Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatome... OMIM:260400
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Growth delay, Weight loss, Thrombocytopenia ORPHA:79242
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Hepatomegaly, Subpleural interstitial thickenin... ORPHA:79128
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice ORPHA:226313
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Abnormal liver lobulation, Respiratory insufficiency, Dispr... OMIM:608022
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Odontochondrodysplasia 1
Respiratory distress, Short stature, Pulmonary hypoplasia, Death in infancy, Mesomelic short stat... OMIM:184260
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Small for gestational age, Tachypnea, Ove... ORPHA:26793
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage... ORPHA:292
Double Outlet Right Ventricle
Failure to thrive, Short stature, Cyanosis, Tachypnea, Pulmonary artery atresia ORPHA:3426
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Farber Disease
Respiratory distress, Failure to thrive, Hepatic failure, Nodular pattern on pulmonary HRCT, Shor... ORPHA:333
Encephalopathy, Ethylmalonic
Failure to thrive, Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Chiari Malformation Type Ii
Myelomeningocele, Cyanosis, Inspiratory stridor, Spina bifida, Cervical myelopathy OMIM:207950
Atrial Septal Defect, Ostium Primum Type
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... ORPHA:99106
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Urticaria, Pancreatitis, Neutrophilia, Vasculitis in the skin, Cutis marmor... ORPHA:3260
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... OMIM:211530
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Neutropenia, Thr... OMIM:251000
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Hepatomegaly, Respiratory insufficiency, Respiratory fai... ORPHA:308552
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Recurrent r... ORPHA:329178
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Intrauterine growth retardation, Leukopenia, Rhizomelia, Recurrent pneumoni... OMIM:616271
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Failure to th... OMIM:612852
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Hepatomegaly, Splenomegaly, Leukopen... OMIM:617303
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Death in infancy OMIM:619334
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosinophilia, Cutis marmorata,... ORPHA:183
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Eosinophilic Fasciitis
Eosinophilia, Weight loss, Acrocyanosis, Abnormal eosinophil morphology ORPHA:3165
Goodpasture Syndrome
Increased DLCO, Nodular pattern on pulmonary HRCT, Pulmonary hemorrhage, Cyanosis, Crackles, Hemo... OMIM:233450
Toxic Epidermal Necrolysis
Respiratory distress, Pancreatitis, Acute hepatic failure, Erythema, Abnormal pleura morphology, ... ORPHA:537
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Tarp Syndrome
Failure to thrive, Apnea, Extramedullary hematopoiesis, Cyanosis, Pulmonary hypoplasia, Intrauter... ORPHA:2886
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombo... OMIM:251110
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Pneumonia, Short stature ORPHA:1867
Meckel Syndrome 14
Cyanosis, Cardiorespiratory arrest, Pulmonary hypoplasia, Hepatic fibrosis, Pneumothorax, Occipit... OMIM:619879
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic failure, Cyanosis, Respiratory insufficiency, Elevated hepatic transaminase... ORPHA:159
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Hepatomegaly ORPHA:927
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Apneic episodes in infancy, Elevated hepa... ORPHA:348
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Short stature, Abnormal pulmonary interstitial m... ORPHA:209905
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Apnea, Cyanosis, Inspiratory stridor, Pneumonia, Meningocele ORPHA:1136
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Lymphatic Malformation 7
Respiratory distress, Anemia, Pulmonary edema OMIM:617300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Acrocyanosis, Failure to thrive OMIM:614407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pulm... ORPHA:99050
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombo... OMIM:251100
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Cyanosis, Orthopnea, Pulmonary hypoplasia, Recurrent pneumo... ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Lip telangiectasia, Fi... OMIM:187300
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Growth delay, Respiratory failure ORPHA:2707
Buerger Disease
Acrocyanosis ORPHA:36258
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic ane... OMIM:274150
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage, Splenic rupture ORPHA:335
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Growth delay, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Congenital Tracheal Stenosis
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... ORPHA:141127
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Ethylmalonic Encephalopathy
Failure to thrive, Petechiae, Acrocyanosis ORPHA:51188
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Aicardi-Goutieres Syndrome 1
Petechiae, Hepatomegaly, Splenomegaly, Short stature, Erythema, Elevated hepatic transaminase, Pu... OMIM:225750
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Hepatomegaly, Peritonitis, Erythema, Purpura, Growth delay, Acrocyanosis ORPHA:343
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Neutropenia in presence of anti-neutropil antibodies, Splenomega... ORPHA:37042
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Decreased liver function, Apnea, Failure to thrive, Central hypoventilation... ORPHA:70474
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, In... OMIM:266910
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Death in infancy OMIM:613390
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Apnea, Hepatomegaly, Splenomegaly, Hepatic failure, Cyanosis, Respiratory insu... OMIM:252010
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections OMIM:619383
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Peritonitis, Tachypnea, H... ORPHA:36234
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... ORPHA:98915
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... OMIM:301790
Craniofaciofrontodigital Syndrome
Respiratory distress, Short stature, Palmoplantar cutis laxa, Large for gestational age, Prominen... ORPHA:363705
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Cyanosis, Pneumonia, Dyspnea, Exertional dyspnea, Pulmonary ar... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Short stature, Granulocytopenia, Macrocytic anemia OMIM:606164
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Poems Syndrome
Polycythemia, Thrombocytosis, Pleural effusion, Restrictive ventilatory defect, Weight loss, Pulm... ORPHA:2905
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Fucosidosis
Failure to thrive, Vascular skin abnormality, Hepatomegaly, Abnormality of the gallbladder, Acroc... ORPHA:349
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death OMIM:610498
Lissencephaly 7 With Cerebellar Hypoplasia
Neonatal death, Death in infancy OMIM:616342
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Cyanosis, Pulmonary artery hypoplasia, Delayed puberty, Growth delay ORPHA:2326
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Cyanosis, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress OMIM:160900
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Decreased body weight, Pulmonary edema, Petechiae, Leukocytosis, Epistaxis,... ORPHA:340
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Nocardiosis
Respiratory distress, Nonproductive cough, Peritonitis, Pneumothorax, Pleuritis, Productive cough... ORPHA:31204
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Intrauterine growth retardation, Failure to thrive, P... ORPHA:79282
Mogs-Cdg
Respiratory distress, Apnea, Pulmonary edema, Hepatomegaly, Hepatosplenomegaly, Thrombocytopenia,... ORPHA:79330
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Acrocyanosis, Hepatic failure ORPHA:49566
Myasthenia Gravis
Hemolytic anemia, Hepatitis, Pure red cell aplasia, Dyspnea, Acrocyanosis ORPHA:589
Truncus Arteriosus
Pulmonary edema, Hypoplasia of the thymus, Cyanosis, Anomalous origin of one pulmonary artery fro... ORPHA:3384
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpu... ORPHA:2330
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis, Palmar t... OMIM:600376
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Growth delay, Intrauterine growth retardation OMIM:612863
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... ORPHA:3015
Cryptococcosis
Respiratory distress, Nodular pattern on pulmonary HRCT, Cirrhosis, Peritonitis, Lymphoid leukemi... ORPHA:1546
Histiocytoid Cardiomyopathy
Failure to thrive, Pulmonary edema, Hepatomegaly, Cyanosis, Tachypnea, Cough ORPHA:137675
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature OMIM:268320
Dravet Syndrome
Cyanotic episode ORPHA:33069
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Failure to thrive, Sleep apnea, Hepatomegaly, Respiratory insufficiency, Or... ORPHA:365
Afibrinogenemia, Congenital
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:202400
Diamond-Blackfan Anemia 10
Respiratory distress, Steroid-responsive anemia, Short stature, Macrocytic anemia, Growth delay, ... OMIM:613309
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Short stature, Central hypoventilation, Recurrent upper respiratory tract infections, Cya... ORPHA:293987
Boomerang Dysplasia
Neonatal death OMIM:112310
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Disproportionate short-trunk short stature, Rhizomelia, Umb... OMIM:156550
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Lujo Hemorrhagic Fever
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Nonproductive cough, Leukopenia, Fulmi... ORPHA:319213
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Birth length less than 3rd pe... OMIM:224690
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, ... ORPHA:83617
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema, Hepatomegaly OMIM:115197
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Fetal Gaucher Disease
Stillbirth, Neonatal death, Death in infancy ORPHA:85212
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Dermatomyositis
Lung adenocarcinoma, Telangiectasia of the skin, Acrocyanosis, Abnormal eosinophil morphology, Re... ORPHA:221
Moebius Syndrome
Respiratory distress OMIM:157900
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Listeriosis
Splenic abscess, Respiratory distress, Miscarriage, Peritonitis, Cholecystitis, Hepatic granuloma... ORPHA:533
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Failure to thrive, Respiratory distress, Hepatomegaly, Biliary atresia, Cyanosi... OMIM:306955
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Hepatosplenomegaly, Leukopenia, Pulmonary arterial hype... ORPHA:505248
Eisenmenger Syndrome
Increased mean corpuscular volume, Respiratory distress, Hepatomegaly, Cyanosis, Hypochromic micr... ORPHA:97214
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Exocrine pancreatic insufficiency, Small for gestational... ORPHA:2255
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Failure to thrive, Apnea, Hepatomegaly, Elevated hepatic transaminase, Grow... ORPHA:17
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Neonatal death OMIM:236500
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Familial Dysautonomia
Abnormal pleura morphology, Abnormality of the peritoneum, Growth delay, Acrocyanosis, Recurrent ... ORPHA:1764
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous... OMIM:616749
Mgat2-Cdg
Respiratory distress, Failure to thrive, Recurrent upper and lower respiratory tract infections, ... ORPHA:79329
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dyspnea ORPHA:100050
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Hepatomegaly, Cyanosis... ORPHA:99125
Abcd Syndrome
Neonatal death OMIM:600501
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Failure to thrive, Stridor, Fragile skin, Pneumonia, Pneumothorax, Growth d... ORPHA:79404
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Growth delay, Acrocyanosis, Recurrent infections due to aspir... OMIM:223900
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Neutrophilia, Respiratory paralysis... ORPHA:79139
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Respiratory failure, Dyspnea, Grow... ORPHA:2554
Cardiomyopathy, Dilated, 2G
Neonatal death OMIM:619897
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Umbilical hernia ORPHA:1555
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Neonatal short-trunk short stature, Restrictive ventilatory defect, Cervica... OMIM:183900
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Obesity, Intrauterine growth retardation, Recurrent respirat... ORPHA:177907
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Pitt-Hopkins Syndrome
Failure to thrive, Growth delay, Sleep apnea, Abnormal pattern of respiration, Hyperventilation, ... ORPHA:2896
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Tachypnea, Wheezing, Cough, Hyperventilation, Pneumothorax... ORPHA:90068
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... ORPHA:536467
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive ORPHA:1051
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Decreased body weight, Hepatomegaly, Central sleep apnea, Elevated hepatic ... OMIM:615273
Unilateral Polymicrogyria
Epistaxis, Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Pulmonary arteriovenous malformation, Conjunctival telangiectasia, Spontaneous, recurre... OMIM:610655
Alternating Hemiplegia Of Childhood
Respiratory distress, Failure to thrive, Flushing, Apnea, Aspiration ORPHA:2131
Coccidioidomycosis
Respiratory distress, Pancreatitis, Pleural empyema, Peritonitis, Eosinophilia, Abnormality of th... ORPHA:228123
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Campomelic Dysplasia
Respiratory distress, Failure to thrive, Disproportionate short-limb short stature, Neonatal shor... OMIM:114290
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Respiratory distress, Absent gallbladder, Pulmonary arterial hypertension, Aspl... ORPHA:210122
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Mitochondrial Dna-Associated Leigh Syndrome
Failure to thrive, Apnea, Episodic respiratory distress, Hepatomegaly, Hepatic failure, Hypervent... ORPHA:255210
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Adnp Syndrome
Respiratory distress, Short stature, Recurrent upper respiratory tract infections, Truncal obesit... ORPHA:404448
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Postnatal growth retardation, Short stature, Small for g... OMIM:180849
Leptospirosis
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Cough, Hepatitis, Elevated serum transa... ORPHA:509
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Viral hepatitis, Vasculitis in the skin, Cutis mar... ORPHA:48435
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Erythema, Fragile skin, Abnormal pulmonary interstiti... OMIM:614748
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Schinzel-Giedion Syndrome
Annular pancreas, Respiratory distress, Hepatoblastoma, Myeloid leukemia, Neural tube defect, Pul... ORPHA:798
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Severe failure to thrive, Delayed menarche, Cyanosis, Genera... ORPHA:740
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Tuberous Sclerosis Complex
Respiratory distress, Generalized abnormality of skin, Hepatic cysts, Respiratory tract infection... ORPHA:805
Arboleda-Tham Syndrome
Respiratory distress, Recurrent aspiration pneumonia, Neonatal respiratory distress, Growth delay... OMIM:616268
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive, Rhizomelia OMIM:166250
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Leukocytosis ORPHA:31824
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Erythema, Dyspnea, Growth delay, R... ORPHA:2556
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Death in childhood, Neonatal death, Death in infancy OMIM:609313
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Short stature, Cutis marmorata, Hepatosplenomegaly, Arrhine... ORPHA:51
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Short stature, Intrauterine growth retardation ORPHA:3206
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Generalized abnormality of skin, Chronic lung disease, Respiratory failure ... ORPHA:95455
Ulbright-Hodes Syndrome
Respiratory distress, Severe intrauterine growth retardation, Birth length less than 3rd percenti... ORPHA:3404
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:619055
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles OMIM:305100
Gitelman Syndrome
Neoplasm of the pancreas, Failure to thrive, Respiratory distress, Iron deficiency anemia, Delaye... ORPHA:358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Primary Hyperoxaluria
Elevated hepatic transaminase, Acrocyanosis, Failure to thrive, Cutis marmorata ORPHA:416
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Molybdenum Cofactor Deficiency, Complementation Group C
Neonatal death OMIM:615501
Generalized Arterial Calcification Of Infancy
Respiratory distress, Hepatic calcification, Cyanosis, Pancreatic calcification, Pulmonary arteri... ORPHA:51608
Cleidocranial Dysplasia 1
Respiratory distress, Moderately short stature, Neonatal respiratory distress OMIM:119600
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Asthma, Nasal flaring ORPHA:466943
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Short stature, Hepatomegaly, Splenomegaly OMIM:617088
Doors Syndrome
Respiratory distress, Aspiration pneumonia, Arrhinencephaly, Spina bifida occulta, Sirenomelia, T... ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Short stature, Acute myelomonocytic leukemia, Recurrent ... ORPHA:99646
Meacham Syndrome
Death in childhood, Stillbirth, Neonatal death, Death in infancy OMIM:608978
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Respiratory distress, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Dor... ORPHA:64
8Q24.3 Microdeletion Syndrome
Respiratory distress, Exocrine pancreatic insufficiency, Short stature, Small for gestational age... ORPHA:508488
Plague
Respiratory distress, Hepatomegaly, Acute infectious pneumonia, Splenomegaly ORPHA:707
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis, Pulmonary artery atresia ORPHA:216694
Coffin-Lowry Syndrome
Cutis marmorata, Decreased body weight, Acrocyanosis, Short stature OMIM:303600
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... ORPHA:287
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Cyst of the ductus ... ORPHA:480880
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Umbilical hernia ORPHA:285
Visceral Steatosis, Congenital
Neonatal death OMIM:228100
Pmm2-Cdg
Respiratory distress, Failure to thrive, Aspiration pneumonia, Impaired neutrophil chemotaxis, El... ORPHA:79318

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.

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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

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

Subscribe to newsletter