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Gene: Ola1 MGI:1914309

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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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 Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

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MicroCT E18.5

Embryo reconstruction

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X-ray

XRay Images Skull Lateral Orientation

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Electrocardiogram (ECG)

Waveform Image

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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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, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Neutrophilia, Crackles, Nonproductive cou... ORPHA:1302
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Lung adenocarcinoma, Reduced forced vital capacity, Nonproducti... ORPHA:2302
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Neonatal... OMIM:619751
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Acrocyanosis, Death in childhood OMIM:302000
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Growth... ORPHA:2414
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Bronchiolitis OMIM:615993
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis ORPHA:91130
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Hepatic steatosis ORPHA:26792
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm... ORPHA:77260
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Pulmonar... ORPHA:70588
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Pulmonary hypoplas... OMIM:616733
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood, Intrauterine growth retardation, Failure to thrive, Thr... OMIM:615597
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne... OMIM:613490
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Sideroblastic anemia, Respirat... OMIM:613561
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Short stature, Decreased ... OMIM:300580
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... OMIM:616974
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Slc35A1-Cdg
Respiratory distress, Pneumonia, Thrombocytopenia, Giant platelets, Hypoxemia, Neutropenia, Abnor... ORPHA:238459
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Abnormal erythrocyte morphology ORPHA:71277
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re... ORPHA:60033
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... ORPHA:454836
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Thrombocytopenia ORPHA:370924
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Cr... ORPHA:210136
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Polycythemia, Growth delay, Methemoglobinemia, Exertional dyspnea OMIM:250800
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Small for gestational... ORPHA:555874
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pulmonary capillary ... ORPHA:199241
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormali... ORPHA:254864
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis, Obesity OMIM:257500
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, R... OMIM:615512
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Premature graying of hair, Anemia, Reticular pa... OMIM:614742
Congenital Heart Block
Intrauterine growth retardation, Pleural effusion, Cyanosis, Crackles ORPHA:60041
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, ... ORPHA:90051
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... OMIM:619611
Malaria
Respiratory distress, Anemia, Thrombocytopenia ORPHA:673
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy OMIM:616287
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Neutropenia, Failure to thriv... ORPHA:79312
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Pulmonary Arteriovenous Malformation
Liver abscess, Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Iron deficiency anemia, P... ORPHA:2038
Ichthyosis, Congenital, Autosomal Recessive 4B
Neonatal death, Death in infancy, Failure to thrive OMIM:242500
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia ORPHA:464453
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, An... OMIM:608013
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Dyspnea, Wheezing, Asthma, Atelectasis, Hypersensitivity pneumonit... ORPHA:2902
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:261304
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil... ORPHA:723
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Thrombocytopenia, Growth delay, Neutropenia, Pancreatitis, An... ORPHA:289916
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Incre... OMIM:261680
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Portal hype... ORPHA:367
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Respiratory distress OMIM:615042
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Death in infancy, Death in childhood OMIM:620265
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Succinic Acidemia
Respiratory distress OMIM:600335
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive ORPHA:444013
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Small for gestational age, Tachypnea, Anomalous pulmonary venous return, ... ORPHA:860
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst... OMIM:617180
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Splenomegaly, Telangiectasia, ... OMIM:608799
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Postnatal growth retardation, P... ORPHA:3309
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... OMIM:615486
Tularemia
Respiratory distress, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Pleural effusion, Anemia ORPHA:3392
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in infancy, Death in childhood OMIM:614096
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Death in infancy, Respiratory distress, Failure to thrive, Microve... OMIM:617156
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Complete Atrioventricular Septal Defect
Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumon... ORPHA:1329
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Respi... OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Respiratory distress,... OMIM:260400
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip... OMIM:231680
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss, Growth delay, Thrombocytopenia ORPHA:79242
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ... ORPHA:333
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Throm... ORPHA:781
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Double Outlet Right Ventricle
Cyanosis, Short stature, Tachypnea, Pulmonary artery atresia, Failure to thrive ORPHA:3426
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... ORPHA:26793
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Odontochondrodysplasia 1
Respiratory distress, Death in infancy, Recurrent respiratory infections, Short stature, Mesomeli... OMIM:184260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Encephalopathy, Ethylmalonic
Death in infancy, Failure to thrive, Acrocyanosis, Petechiae OMIM:602473
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Inspiratory stridor OMIM:207950
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Atelectasis, Respiratory distress OMIM:300219
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Small for gestational age, Fail... ORPHA:1199
Diaphanospondylodysostosis
Respiratory distress, Disproportionate short-trunk short stature, Respiratory insufficiency, Abno... OMIM:608022
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, ... ORPHA:292
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:308552
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Cough, Neutrophilia, Angioedema, Leukocyto... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Failure to thrive, Short stature, Elev... OMIM:256810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thr... OMIM:251000
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropenia, Int... OMIM:616271
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Goodpasture Syndrome
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Weight loss, Re... OMIM:233450
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Abnormal pleura morphology, Eosi... ORPHA:183
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Pul... OMIM:612852
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... ORPHA:329178
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Elevated hepatic transaminase, Recurrent respiratory... ORPHA:537
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... OMIM:617303
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive ORPHA:927
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Respiratory insuffi... ORPHA:159
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Tarp Syndrome
Cyanosis, Apnea, Extramedullary hematopoiesis, Pulmonary hypoplasia, Intrauterine growth retardat... ORPHA:2886
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Failure to thrive, Acrocyanosis OMIM:614407
Hereditary Bullous Dystrophy, Macular Type
Growth delay, Acrocyanosis, Short stature, Pneumonia ORPHA:1867
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulm... OMIM:619879
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Disproportionate short sta... OMIM:616482
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Cyanosis, Aortopulmonary window, Pulmonary h... ORPHA:99050
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Thrombocytopenia, Neutropenia, Failure to thriv... OMIM:251110
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... ORPHA:209905
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Intermittent hyperventilation,... ORPHA:348
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Absence Of The Pulmonary Artery
Orthopnea, Recurrent respiratory infections, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pn... ORPHA:980
Buerger Disease
Acrocyanosis ORPHA:36258
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Thrombocytopenia, Eryth... OMIM:225750
Congenital Fibrinogen Deficiency
Cyanosis, Splenic rupture, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Pulmonar... OMIM:187300
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Short stature ORPHA:254913
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Growth delay OMIM:619272
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U... ORPHA:141127
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Cyanosis, Apnea, Failure to thrive, Splenomegaly, Respiratory ins... OMIM:252010
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Neonatal short-limb short sta... OMIM:151210
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi... OMIM:274150
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Urticaria, Growth delay, Acrocyanosis, Purpura ORPHA:343
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Respiratory distress, Recurrent respiratory infections, Autoimmune... ORPHA:37042
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections OMIM:619383
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Rhizomelia, Recurrent pneumonia, Recurrent upper... OMIM:607143
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy OMIM:613730
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Crackles, Nonproductive cough, Fulminant hep... ORPHA:319213
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Peritonitis, Tachypnea, ... ORPHA:36234
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Short stature, Large for gestational age, Dysp... ORPHA:363705
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Thrombocytopenia, Neutropenia, Failure to thriv... OMIM:251100
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Short stature, Granulocytopenia OMIM:606164
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Fanconi Anemia, Complementation Group O
Neonatal death, Death in infancy, Miscarriage OMIM:613390
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Poems Syndrome
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventil... ORPHA:2905
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty ORPHA:2326
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Anemia, Hepatic he... ORPHA:2330
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Hepatosplenomegaly, Thrombocytopenia,... ORPHA:79330
Fucosidosis
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abno... ORPHA:349
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema OMIM:617300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Acquired Purpura Fulminans
Acrocyanosis, Hepatic failure, Thrombocytopenia, Macular purpura ORPHA:49566
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cyanosis, Asplenia, Myelomeningocele... OMIM:306955
Dravet Syndrome
Cyanotic episode ORPHA:33069
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Jaundice, Growth delay, Pulmonary... ORPHA:79282
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis,... ORPHA:340
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis OMIM:160900
Histiocytoid Cardiomyopathy
Hepatomegaly, Cyanosis, Tachypnea, Cough, Failure to thrive, Pulmonary edema ORPHA:137675
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Nocardiosis
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... ORPHA:31204
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef... ORPHA:3015
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia, Dyspnea, Hepatitis, Acrocyanosis ORPHA:589
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... ORPHA:185
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, P... ORPHA:1546
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature OMIM:268320
Achondroplasia
Respiratory distress, Death in infancy, Rhizomelia, Upper airway obstruction, Pulmonary hypoplasi... OMIM:100800
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Respiratory insufficiency due to muscle weakness, ... ORPHA:365
Double Outlet Left Ventricle
Failure to thrive, Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Pulmonary edema, Dyspnea OMIM:115197
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Kniest Dysplasia
Respiratory distress, Rhizomelia, Disproportionate short-trunk short stature, Tracheomalacia, Umb... OMIM:156550
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Intrauterine growth retardation, Growth delay OMIM:612863
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-... OMIM:613309
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Afibrinogenemia, Congenital
Neonatal death, Death in infancy, Death in adolescence, Death in childhood OMIM:202400
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Boomerang Dysplasia
Neonatal death OMIM:112310
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperpla... ORPHA:83617
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Birth length less than 3rd per... OMIM:224690
Osteogenesis Imperfecta, Type X
Respiratory distress, Short stature, Rhizomelia, Recurrent pneumonia, Death in childhood, Chronic... OMIM:613848
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery... ORPHA:221
Moebius Syndrome
Respiratory distress OMIM:157900
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio... ORPHA:17
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Pulm... OMIM:616749
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Short stature, Central hypoventilation,... ORPHA:293987
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Small for gestational age, Exocrine pancreatic insuffici... ORPHA:2255
Lymphatic Malformation 12
Neonatal death, Death in adolescence OMIM:620014
Listeriosis
Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu... ORPHA:533
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Cyanosis, Increased pulmonary vascular resistance, Wheezing, ... ORPHA:97214
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hepatosplenomegaly, Str... ORPHA:505248
Familial Dysautonomia
Abnormal peritoneum morphology, Recurrent respiratory infections, Abnormal pleura morphology, Gro... ORPHA:1764
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration, Growth ... OMIM:223900
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Short stature, Obesity, Intrauterine grow... ORPHA:177907
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Growth delay, Respiratory failur... ORPHA:79404
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Respiratory paralysis, Abnormal patter... ORPHA:79139
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis,... ORPHA:99125
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return OMIM:617478
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia, Abnormality of the pancreas ORPHA:1555
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter... ORPHA:2554
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive, ... ORPHA:79329
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Neonatal short-trunk short stature, Restrictive ventil... OMIM:183900
Abcd Syndrome
Neonatal death OMIM:600501
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Severe failure to thrive, Decreased body weight ORPHA:1051
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... ORPHA:90068
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration, Failure to thrive, Flushing ORPHA:2131
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Pitt-Hopkins Syndrome
Postnatal growth retardation, Growth delay, Acrocyanosis, Failure to thrive, Abnormal pattern of ... ORPHA:2896
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Coccidioidomycosis
Respiratory distress, Pneumonia, Eosinophilia, Abnormality of the spleen, Peritonitis, Abnormalit... ORPHA:228123
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 Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... OMIM:615273
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Recurrent upper respira... OMIM:114290
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... ORPHA:210122
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Adnp Syndrome
Respiratory distress, Short stature, Recurrent upper respiratory tract infections, Aspiration, Tr... ORPHA:404448
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Failure to thrive, Apnea, Dyspnea, Episodic respiratory distress, Hepatic failure, ... ORPHA:255210
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia, Splenic cyst OMIM:618188
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Leptospirosis
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Cough, Elevated serum transaminases duri... ORPHA:509
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Vasculitis in the ski... ORPHA:48435
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Failure to thrive, Small for gestational age, Short statu... OMIM:180849
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Delayed menarche, Upper airway obstruction, Weight... ORPHA:740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... ORPHA:805
Schinzel-Giedion Syndrome
Respiratory distress, Myeloid leukemia, Failure to thrive in infancy, Recurrent pneumonia, Neural... ORPHA:798
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Growth del... OMIM:616268
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Infancy onset short-trunk short stature, Small for gestatio... ORPHA:508488
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Osteoglophonic Dysplasia
Respiratory distress, Severe short stature, Rhizomelia, Growth delay, Failure to thrive OMIM:166250
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Colchicine Poisoning
Respiratory distress, Leukocytosis, Cardiorespiratory arrest ORPHA:31824
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Erythema, Growth delay, Respiratory failure,... ORPHA:2556
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Short stature, Asthma, Intrauterine growth retardation ORPHA:3206
Mednik Syndrome
Neonatal death, Death in infancy, Death in childhood OMIM:609313
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Respiratory di... ORPHA:95455
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc... ORPHA:3404
Primary Hyperoxaluria
Elevated hepatic transaminase, Failure to thrive, Acrocyanosis, Cutis marmorata ORPHA:416
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cutis marmorata, Short stature, Neonatal alloimmune thrombocytopen... ORPHA:51
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Iron deficiency anemia, Delayed puberty, Failure ... ORPHA:358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Short stature, Moderately short stature OMIM:119600
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Failure to thrive in infancy, Hepatic calcification, Pulmonary ar... ORPHA:51608
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Short stature, Respiratory distress OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Acute myelomonocytic leukemia, Growth d... ORPHA:99646
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Doors Syndrome
Respiratory distress, Sirenomelia, Aspiration pneumonia, Thrombocytosis, Spina bifida occulta ORPHA:79500
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Failure to thrive, Cyanosis ORPHA:216694
Alström Syndrome
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Short stature, Portal hy... ORPHA:64
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Plague
Splenomegaly, Hepatomegaly, Acute infectious pneumonia, Respiratory distress ORPHA:707
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchymosis, Acrocyanosis, Frag... ORPHA:287
Isolated Arrhinia
Respiratory distress ORPHA:1134
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata, Short stature, Decreased body weight OMIM:303600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Short stature, Cyst of the ductus choledochus, Delayed puberty, Recurrent u... ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Acrocyanosis, Apnea ORPHA:285
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Abnormal subcutaneous fat tissue distributio... 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.

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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