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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 embryo size Ola1em1(IMPC)Bay HOM E18.5 0.00
abnormal placenta 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 Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Electrocardiogram (ECG)

Waveform Image

1 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
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Cough, Failure to thrive, ... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Bronchopulmonary Dysplasia
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, P... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss ORPHA:141152
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... OMIM:265120
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Death in infancy, Pneumonia OMIM:254120
Cryptogenic Organizing Pneumonia
Dyspnea, Leukocytosis, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Cr... ORPHA:1302
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Asbestos Intoxication
Dyspnea, Wheezing, Late inspiratory crackles, Atelectasis, Decreased DLCO, Restrictive ventilator... ORPHA:2302
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Death in adolescence, Intrauterine growth retardation, Neonatal ... OMIM:619751
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Respiratory distress, Recurrent viral pneumonia, R... OMIM:619773
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Recurrent respiratory infections, Restrictive ventilatory defect, ... ORPHA:2257
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Hepatomegaly, Respiratory ... ORPHA:2414
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Recurrent Respiratory Papillomatosis
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Failure to thrive, Up... ORPHA:60032
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Cyanosis OMIM:613977
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Short stature, Respiratory distress, Bronchiolitis, Obesity OMIM:615993
Laryngotracheal Angioma
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing ORPHA:137935
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Failure to thrive ORPHA:91130
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Failure to thrive, Respiratory distr... ORPHA:91359
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Failure to thrive in infancy, Hypoxemia, Crazy ... ORPHA:264675
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Hepatic steatosis, Failure to thrive ORPHA:26792
Gaucher Disease Type 2
Recurrent respiratory infections, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of ... ORPHA:77260
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Dyspnea, Lung abscess, Decreased DLCO, Re... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure ORPHA:1832
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Atelectasis, Hypoxemia, Intrauterine growt... ORPHA:70588
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Pulmonary hypoplasia, Intrauterine growth retardation, Respiratory dis... OMIM:616733
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Neuralgic Amyotrophy
Respiratory insufficiency, Short stature, Acrocyanosis ORPHA:2901
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... ORPHA:1303
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Intrauterine growth retardation, Failure to thrive, Respiratory distress, Thr... OMIM:615597
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... OMIM:619466
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Fa... OMIM:613561
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, Cough, Chronic bronch... OMIM:613490
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Sh... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616974
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Severe short stature, Failure to thrive OMIM:245590
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Aspiration, Dyspnea, Recurrent respiratory infections, Cough, Cyan... ORPHA:2004
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Immunoneurologic Disorder, X-Linked
Small for gestational age, Neonatal death OMIM:300076
Slc35A1-Cdg
Hypoxemia, Abnormal platelet granules, Giant platelets, Respiratory distress, Thrombocytopenia, P... ORPHA:238459
Autoimmune Pulmonary Alveolar Proteinosis
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, ... ORPHA:747
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Abnormal erythrocyte morphology ORPHA:71277
Staphylococcal Necrotizing Pneumonia
Dyspnea, Leukocytosis, Leukopenia, Tachypnea, Pleural effusion, Cough, Hypoxemia, Nonproductive c... ORPHA:36238
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Congenital Myopathy 10A, Severe Variant
Restrictive ventilatory defect, Respiratory insufficiency, Failure to thrive, Respiratory distres... OMIM:614399
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age, Methemoglobinemia, Exertional dyspnea ORPHA:621
Acute Lung Injury
Dyspnea, Diffuse alveolar hemorrhage, Hypoxemia, Respiratory distress, Acute pancreatitis, Pneumo... ORPHA:178320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Avian Influenza
Miscarriage, Dyspnea, Tachypnea, Leukopenia, Cough, Productive cough, Hypoxemia, Elevated hepatic... ORPHA:454836
Stt3B-Cdg
Respiratory distress, Thrombocytopenia, Intrauterine growth retardation, Failure to thrive ORPHA:370924
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Oxygen desaturation on exertion, Recurrent respiratory infections,... OMIM:610978
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Respiratory failure, Pneumothorax, C... ORPHA:60025
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Abnormality of the hepatic vasculature, Dyspnea, Restrictive ventilatory defe... ORPHA:210136
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... ORPHA:254875
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Dyspnea, Myeloid leukemia, Reticular pattern on pulmonary HRCT, Aplastic anemia, Anemia, Decrease... OMIM:614742
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
Methemoglobinemia, Polycythemia, Growth delay, Cyanosis, Exertional dyspnea OMIM:250800
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Respiratory failure requiring assisted ventilation, Hypoxemia, Intraut... ORPHA:555874
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Cyanosis, Pulmonary arterial hypertensio... ORPHA:95430
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal proportion of CD4-positive T cells, ... ORPHA:133
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Abnormality of the liver, Hepatomegaly, Respiratory... ORPHA:254864
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Triosephosphate Isomerase Deficiency
Jaundice, Death in adolescence, Hemolytic anemia, Normocytic anemia, Respiratory insufficiency, R... OMIM:615512
Restrictive Dermopathy 2
Cyanosis, Respiratory distress, Intrauterine growth retardation OMIM:619793
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Sepsis In Premature Infants
Jaundice, Dyspnea, Leukocytosis, Abnormal mucociliary clearance, Abnormal respiratory system phys... ORPHA:90051
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death OMIM:616287
Malaria
Respiratory distress, Thrombocytopenia, Anemia ORPHA:673
Anaplastic Thyroid Carcinoma
Dyspnea, Cough, Neoplasm of the lung, Upper airway obstruction, Respiratory distress, Stridor, We... ORPHA:142
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Failure to thrive, Respiratory distress, Thrombocytopenia, Sp... ORPHA:79312
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Liver abscess, Pulmonary hemorrhage, Cough, Hypoxemia, ... ORPHA:2038
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death, Failure to thrive OMIM:242500
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Anemia, Pulmonary hypoplasia, Intrauterine growth retardation, Hepatomegaly, ... OMIM:608013
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Failure to thrive OMIM:612075
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Reduced vital capacity, Respiratory failure, Cyanosis, Orthopnea,... ORPHA:98913
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Choanal Atresia
Recurrent respiratory infections, Tracheomalacia, Chronic sinusitis, Upper airway obstruction, Re... ORPHA:137914
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:261304
Acquired Methemoglobinemia
Dyspnea, Methemoglobinemia, Hypoxemia, Respiratory distress, Cyanosis ORPHA:464453
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Dyspnea, Leukocytosis, Atelectasis, Restrictive ventilatory defect, Hypersensi... ORPHA:2902
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Pancreatitis, Hepatomegaly, Respiratory distress, Thrombocytopenia, Growth delay, Neutrop... ORPHA:289916
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Res... ORPHA:723
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Increased hepatic echo... OMIM:261680
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Hepatomegaly... OMIM:612387
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Respiratory insufficiency, Hepatomegaly, Elevated hepatic transaminase, Cirrh... ORPHA:367
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy, Elevated hepatic transaminase OMIM:615042
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Cyanotic episode, Intrauterine growth retardation ORPHA:284417
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Paroxysmal dyspnea, Respiratory failure, Cyanosis, Stridor ORPHA:444013
Succinic Acidemia
Respiratory distress OMIM:600335
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Hypoxemia, Hepatomegaly, Failure to thrive, Tachypnea, Cyanosis, Anoma... ORPHA:860
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Telangiectasia, Respiratory distr... OMIM:608799
Chitayat Syndrome
Recurrent respiratory infections, Tracheomalacia, Short stature, Respiratory distress, Abnormal p... OMIM:617180
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary arterial hypertension, Pulmonary hypoplasia, Failure ... ORPHA:3309
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Neonatal respiratory distress, Hypopnea, Death in infancy, Recurrent lower re... OMIM:618426
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Erythema, Angioedema, Upper airway obstruction, Respiratory distress, Urticaria ORPHA:100057
Interstitial Lung And Liver Disease
Dyspnea, Elevated circulating aspartate aminotransferase concentration, Anemia, Cholestasis, Elev... OMIM:615486
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen, Intrauterine growth retardation ORPHA:89844
Tularemia
Leukocytosis, Anemia, Cough, Respiratory distress, Thrombocytopenia, Pneumonia, Pleural effusion ORPHA:3392
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615595
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Death in infancy, Neonatal death OMIM:614096
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Jaundice, Cholestasis, Death in infancy, Intrauterine growth retardation, Elevated hepatic transa... OMIM:617156
Complete Atrioventricular Septal Defect
Intercostal retractions, Pulmonary venous hypertension, Hepatomegaly, Failure to thrive, Crackles... ORPHA:1329
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Recurrent respiratory ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Recurrent respiratory ... ORPHA:98914
Auriculocondylar Syndrome 2
Respiratory distress, Snoring, Apnea OMIM:614669
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:212140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Death in childhood, Anemia, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Incre... OMIM:220110
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Hepatomegaly, Respiratory distress, Respiratory fail... OMIM:614299
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Laryngeal Web
Respiratory distress, Stridor, Short stature ORPHA:2374
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Nipah Virus Disease
Cough, Recurrent pharyngitis, Respiratory distress ORPHA:99825
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neonatal respiratory distress, Small for gestational age, Anem... OMIM:260400
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Large for gestational age, Tachypnea ORPHA:45452
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Farber Disease
Hepatosplenomegaly, Atelectasis, Anemia, Intrahepatic cholestasis with episodic jaundice, Respira... ORPHA:333
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Pulmonary hypoplasia, Hepatomegaly, Neonatal death, Respiratory distress, Hepatic steat... OMIM:231680
Q Fever
Hepatosplenomegaly, Anemia, Abnormality of the liver, Cough, Hepatomegaly, Elevated hepatic trans... ORPHA:781
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Thrombocytopenia, Tachypnea, Weight loss ORPHA:79242
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice ORPHA:226313
Odontochondrodysplasia 1
Recurrent respiratory infections, Mesomelic short stature, Pulmonary hypoplasia, Death in infancy... OMIM:184260
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Brown-Vialetto-Van Laere Syndrome 1
Death in childhood, Recurrent respiratory infections, Dyspnea, Respiratory insufficiency, Respira... OMIM:211530
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Small for gestational age, Overweight, Hepatomegaly, Elevated hepatic transaminase, Res... ORPHA:26793
Double Outlet Right Ventricle
Pulmonary artery atresia, Short stature, Failure to thrive, Tachypnea, Cyanosis ORPHA:3426
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Spina bifida, Cyanosis, Inspiratory stridor OMIM:207950
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele ORPHA:66637
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis, Failure to thrive OMIM:602473
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Leukopenia, Anemia, Cholestasis, Hepatitis, Respira... ORPHA:292
Diaphanospondylodysostosis
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Disproportionate short-trunk sho... OMIM:608022
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure ORPHA:2759
Esophageal Atresia
Aspiration, Recurrent respiratory infections, Bronchitis, Small for gestational age, Chronic pulm... ORPHA:1199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... ORPHA:308552
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Recurrent respiratory infections, Pulmonary arterial hypertension, D... ORPHA:99106
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Chronic hepatitis, Neutrophilia, Hepatosplenomegaly, Myeloproliferative disorder, D... ORPHA:3260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Elevated circulating aspartate aminotr... OMIM:256810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Pancreatitis, Hepatomegaly, Failure to thrive, Respiratory distress, Thrombocytopenia... OMIM:251000
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Rhizomelia, Intrauterine growth retardation, Respiratory distress, Recurrent pneumoni... OMIM:616271
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Cough, Abnormal pleura morphology... ORPHA:183
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Failure to thrive in infancy, Hepatomegaly, Pulmonary fibrosis, Respiratory distress, Neutrophili... OMIM:612852
Odontochondrodysplasia
Respiratory distress, Death in infancy, Short stature ORPHA:166272
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive,... ORPHA:329178
Goodpasture Syndrome
Increased DLCO, Hemosiderin-laden macrophages in bronchoalveolar fluid, Reticular pattern on pulm... OMIM:233450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Hepatomegaly, Irregular respiration, Respiratory distress, Inspiratory stridor OMIM:604377
Eosinophilic Fasciitis
Acrocyanosis, Weight loss, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Arthrogryposis Multiplex Congenita 6
Death in childhood, Death in infancy, Neonatal death OMIM:619334
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction, Asplenia, Polysplenia OMIM:612776
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Recurrent respiratory infections, Leukopenia, Anemia, Hepatomegaly, Respirato... OMIM:617303
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Erythema, Anemia, Restrictive ventilator... ORPHA:537
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Sudden episodic apnea, Hepatomegaly, Elevated hepatic transaminase, Cy... ORPHA:159
Tarp Syndrome
Extramedullary hematopoiesis, Pulmonary hypoplasia, Intrauterine growth retardation, Apnea, Failu... ORPHA:2886
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive ORPHA:927
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Growth delay OMIM:614407
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Short stature, Acrocyanosis, Growth delay ORPHA:1867
Meckel Syndrome 14
Pulmonary hypoplasia, Occipital encephalocele, Cardiorespiratory arrest, Hepatic fibrosis, Pneumo... OMIM:619879
Obsolete: Arnold-Chiari Malformation Type Ii
Myelomeningocele, Meningocele, Apnea, Pneumonia, Cyanosis, Inspiratory stridor ORPHA:1136
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Severe short stature, Rhizomelia, Neona... OMIM:616482
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... ORPHA:99050
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Intermittent hyperventilation, Hepatomegaly, Elevated hepatic transaminase, Respiratory ... ORPHA:348
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Recurrent respiratory infections,... ORPHA:209905
Methylmalonic Aciduria, Cblb Type
Anemia, Hepatomegaly, Failure to thrive, Respiratory distress, Thrombocytopenia, Pancytopenia, Ne... OMIM:251110
Thyroid Lymphoma
Respiratory distress, Upper airway obstruction, Dyspnea, Stridor ORPHA:97285
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Pulmonary hypoplasia,... ORPHA:980
Congenital Fibrinogen Deficiency
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility, Splenic rupture ORPHA:335
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Polycythemia, Hypoxemia, Nasal mucosa telangiectasia, Palate telangiectasia, ... OMIM:187300
Buerger Disease
Acrocyanosis ORPHA:36258
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Growth delay OMIM:619272
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Failure to thrive, Respiratory distress, Respiratory failure, Growth delay ORPHA:2707
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Dyspnea... ORPHA:141127
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Respir... OMIM:274150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Pulmonary hypoplasia, Stillbirth, Respiratory distress, Neonatal short-limb short sta... OMIM:151210
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Hepatomegaly, Death in infancy, Apnea, Failure to thrive, Respiratory ... OMIM:252010
Aicardi-Goutieres Syndrome 1
Erythema, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic transaminase, Short stature... OMIM:225750
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Hepatomegaly, Purpura, Growth delay, Urticaria, Acrocyanosis ORPHA:343
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
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Recurrent respiratory infections, Autoimmun... ORPHA:37042
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Rhizomelia, Failure to thrive, Respiratory distress, Recurrent pneumon... OMIM:607143
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hepatomegaly OMIM:619383
Leigh Syndrome With Cardiomyopathy
Anemia, Apnea, Central hypoventilation, Respiratory distress, Failure to thrive, Respiratory fail... ORPHA:70474
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Neonatal death OMIM:613730
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Bacterial Toxic-Shock Syndrome
Peritonitis, Increased circulating myelocyte count, Respiratory tract infection, Ecchymosis, Hepa... ORPHA:36234
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Atelectasis, Fulminant hepatitis, Lymphopenia, Elevated hepatic transam... ORPHA:319213
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory insufficiency, Recurr... ORPHA:98915
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Dyspnea, Large for gestational age, Palmoplantar cutis laxa, Sho... ORPHA:363705
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Dyspnea, Airway obstruction, Breathing dysregulation, Pneumonia,... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Pneumonia, Increased pulmonary vascular resistance, Cya... ORPHA:99104
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Isolated Right Ventricular Hypoplasia
Cyanosis, Dyspnea, Hypoxemia ORPHA:439
Methylmalonic Aciduria, Cbla Type
Anemia, Hepatomegaly, Failure to thrive, Respiratory distress, Thrombocytopenia, Pancytopenia, Ne... OMIM:251100
Fanconi Anemia, Complementation Group O
Miscarriage, Death in infancy, Neonatal death OMIM:613390
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia ORPHA:314655
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Granulocytopenia, Short stature, Macrocytic anemia OMIM:606164
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia OMIM:202650
Mogs-Cdg
Hepatosplenomegaly, Hepatomegaly, Hypoventilation, Apnea, Respiratory distress, Pulmonary edema, ... ORPHA:79330
Poems Syndrome
Pulmonary arterial hypertension, Polycythemia, Restrictive ventilatory defect, Respiratory insuff... ORPHA:2905
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Pulmonary artery hypoplasia, Short stature, Growth delay, Cyanosis ORPHA:2326
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Dyspnea, Respiratory failure ORPHA:330021
Kasabach-Merritt Syndrome
Hepatic hemangioma, Reticulocytosis, Microangiopathic hemolytic anemia, Leukopenia, Anemia, Hypop... ORPHA:2330
Fucosidosis
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Vascular skin abnormality, Acroc... ORPHA:349
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Ethylene Glycol Poisoning
Pulmonary edema, Episodic respiratory distress, Tachypnea, Cyanosis, Abnormal pattern of respiration ORPHA:31826
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Lymphatic Malformation 7
Anemia, Respiratory distress, Pulmonary edema, Pleural effusion, Chylothorax OMIM:617300
Acquired Purpura Fulminans
Hepatic failure, Thrombocytopenia, Macular purpura, Acrocyanosis ORPHA:49566
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Elevated circulating alanine aminotransferase concentrati... ORPHA:365
Dravet Syndrome
Cyanotic episode ORPHA:33069
Nocardiosis
Peritonitis, Pleuritis, Dyspnea, Liver abscess, Productive cough, Nonproductive cough, Respirator... ORPHA:31204
Heterotaxy, Visceral, 1, X-Linked
Asplenia, Myelomeningocele, Total anomalous pulmonary venous return, Hepatomegaly, Polysplenia, F... OMIM:306955
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Pulmonary arterial hypertension, Megaloblastic anemia, Pulmonary embolism, Intrauterine... ORPHA:79282
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Leukocytosis, Anemia, Cough, Elevated hepatic transaminase, Ecchymosis, Respiratory dist... ORPHA:340
Histiocytoid Cardiomyopathy
Cough, Hepatomegaly, Failure to thrive, Pulmonary edema, Tachypnea, Cyanosis ORPHA:137675
Myasthenia Gravis
Dyspnea, Hemolytic anemia, Pure red cell aplasia, Hepatitis, Acrocyanosis ORPHA:589
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis OMIM:160900
Truncus Arteriosus
Hypoplasia of the thymus, Pulmonary artery atresia, Pulmonary hypoplasia, Intrauterine growth ret... ORPHA:3384
Telangiectasia, Hereditary Hemorrhagic, Type 2
Pulmonary arteriovenous malformation, Lip telangiectasia, Pulmonary arterial hypertension, Hepati... OMIM:600376
Radio-Renal Syndrome
Dyspnea, Severe short stature, Respiratory distress, Respiratory failure, Pleural effusion, Chylo... ORPHA:3015
Rodrigues Blindness
Short stature, Ectodermal dysplasia, Nasal flaring OMIM:268320
Achondroplasia
Rhizomelia, Pulmonary hypoplasia, Death in infancy, Upper airway obstruction, Respiratory distres... OMIM:100800
Scimitar Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Cough, Pulmonary hypoplasia, P... ORPHA:185
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Cryptococcosis
Peritonitis, Dyspnea, Cough, Cirrhosis, Respiratory distress, Pneumonia, Pleural effusion, Lympho... ORPHA:1546
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Intrauterine growth retardation, Growth delay OMIM:612863
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea, Hepatomegaly OMIM:115197
Afibrinogenemia, Congenital
Death in childhood, Death in infancy, Death in adolescence, Neonatal death OMIM:202400
Kniest Dysplasia
Tracheomalacia, Umbilical hernia, Rhizomelia, Disproportionate short-trunk short stature, Respira... OMIM:156550
Glycogen Storage Disease Of Heart, Lethal Congenital
Apnea, Respiratory distress, Pulmonary edema, Cyanosis, Pleural effusion OMIM:261740
Diamond-Blackfan Anemia 10
Anemia, Short stature, Reticulocytopenia, Macrocytic anemia, Steroid-responsive anemia, Respirato... OMIM:613309
Nasolacrimal Duct Cyst
Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress... ORPHA:141083
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Boomerang Dysplasia
Neonatal death OMIM:112310
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Pulmonary hypoplasia, Severe B lymphocytopenia, Intrauterine growth retard... ORPHA:83617
Fetal Gaucher Disease
Stillbirth, Death in infancy, Neonatal death ORPHA:85212
Meier-Gorlin Syndrome 1
Small for gestational age, Death in infancy, Intrauterine growth retardation, Birth length less t... OMIM:224690
Dermatomyositis
Abnormal eosinophil morphology, Recurrent respiratory infections, Pulmonary arterial hypertension... ORPHA:221
Infantile Krabbe Disease
Respiratory distress, Cachexia, Respiratory failure, Failure to thrive ORPHA:206436
Moebius Syndrome
Respiratory distress OMIM:157900
Osteogenesis Imperfecta, Type X
Death in childhood, Rhizomelia, Short stature, Chronic lung disease, Respiratory distress, Recurr... OMIM:613848
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Elevated hepatic transaminase, Short stature, Hypoventilation, Cardiorespiratory... ORPHA:293987
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
Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transaminase, Apnea, Respiratory... ORPHA:17
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Lymphatic Malformation 12
Death in adolescence, Neonatal death OMIM:620014
Listeriosis
Peritonitis, Miscarriage, Hepatic granulomatosis, Jaundice, Liver abscess, Granulomatosis, Respir... ORPHA:533
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, P... OMIM:616749
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Eisenmenger Syndrome
Pulmonary arterial hypertension, Wheezing, Abnormality of the liver, Hypoxemia, Hepatomegaly, Aor... ORPHA:97214
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Recurrent respiratory infections, Pulmonary arterial hypertension, Leukopenia... ORPHA:505248
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, Small for gestational age, Umbilica... ORPHA:2255
Familial Dysautonomia
Recurrent respiratory infections, Abnormality of the peritoneum, Abnormal pleura morphology, Grow... ORPHA:1764
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Tracheomalacia, Bruising susceptibility, Atelectasis, Restrictive ventil... ORPHA:536467
Arterial Tortuosity Syndrome
Dyspnea, Cardiorespiratory arrest, Respiratory distress, Prematurely aged appearance, Respiratory... ORPHA:3342
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Respiratory insufficiency, Apnea OMIM:617239
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Growth ... OMIM:223900
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Anemia, Failure to thrive, Respiratory distress, Respiratory failure, Pneumothorax, Grow... ORPHA:79404
Japanese Encephalitis
Irregular respiration, Respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Ne... ORPHA:79139
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Intrauterine growth retardation, Short stature, Respiratory dis... ORPHA:177907
Congenital Total Pulmonary Venous Return Anomaly
Recurrent respiratory infections, Pulmonary arterial hypertension, Supracardiac total anomalous p... ORPHA:99125
Hereditary Angioedema Type 1
Dyspnea, Dermatographic urticaria, Respiratory distress, Urticaria, Inspiratory stridor ORPHA:100050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia, Abnormality of the pancreas ORPHA:1555
Mgat2-Cdg
Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thri... ORPHA:79329
Oculopharyngodistal Myopathy 1
Aspiration, Hypercapnia, Restrictive ventilatory defect, Respiratory insufficiency due to muscle ... OMIM:164310
Ear-Patella-Short Stature Syndrome
Dyspnea, Severe short stature, Intrauterine growth retardation, Failure to thrive, Respiratory di... ORPHA:2554
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Abcd Syndrome
Neonatal death OMIM:600501
Pitt-Hopkins Syndrome
Hyperventilation, Failure to thrive, Sleep apnea, Abnormal pattern of respiration, Growth delay, ... ORPHA:2896
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Cervical myelopathy, Neonatal short-trunk short stature, Respirat... OMIM:183900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Short stature OMIM:300968
Congenital Disorder Of Deglycosylation 1
Recurrent respiratory infections, Central sleep apnea, Hepatic fibrosis, Hepatomegaly, Elevated h... OMIM:615273
Unilateral Polymicrogyria
Cyanosis, Pulmonary arteriovenous malformation, Epistaxis, Apnea ORPHA:268943
Ramos-Arroyo Syndrome
Respiratory distress, Decreased body weight, Severe short stature, Severe failure to thrive ORPHA:1051
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hyperventilation, Cough, Respiratory distress, Pulmonary edema, Pneu... ORPHA:90068
Telangiectasia, Hereditary Hemorrhagic, Type 4
Pulmonary arteriovenous malformation, Lip telangiectasia, Dyspnea, Tongue telangiectasia, Nasal m... OMIM:610655
Alternating Hemiplegia Of Childhood
Aspiration, Failure to thrive, Respiratory distress, Apnea, Flushing ORPHA:2131
Coccidioidomycosis
Peritonitis, Abnormality of the liver, Cough, Pancreatitis, Eosinophilia, Respiratory distress, P... ORPHA:228123
Aortic Arch Interruption
Aortopulmonary window, Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Short stature OMIM:610536
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Neonatal death OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Neonatal death OMIM:618839
Campomelic Dysplasia
Neonatal respiratory distress, Tracheomalacia, Spinal dysraphism, Spina bifida, Recurrent lower r... OMIM:114290
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Myelopathy ORPHA:79241
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Asplenia, Respiratory distress, Absent gallbladder, Annular panc... ORPHA:210122
Adnp Syndrome
Aspiration, Umbilical hernia, Truncal obesity, Short stature, Respiratory distress, Recurrent upp... ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia, Splenic cyst OMIM:618188
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Hyperventilation, Hepatomegaly, Apnea, Failure to thrive, Episodic respiratory distress,... ORPHA:255210
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Small for gestational age, Spina bifida, Leukemia, Truncal obesity, Short sta... OMIM:180849
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Leptospirosis
Jaundice, Pleural effusion, Pulmonary hemorrhage, Cough, Hepatomegaly, Hepatitis, Respiratory dis... ORPHA:509
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Palpable purpura, Pneumonia, Vasculitis in the ski... ORPHA:48435
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Neonatal respiratory distress, Recurrent respiratory infections, Erythema, Respiratory distress, ... OMIM:614748
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Upper airway obstruction, Delayed menarche, Weight loss, Prematu... ORPHA:740
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Schinzel-Giedion Syndrome
Myeloid leukemia, Umbilical hernia, Pulmonary hypoplasia, Failure to thrive in infancy, Hepatobla... ORPHA:798
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Tuberous Sclerosis Complex
Respiratory tract infection, Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory fa... ORPHA:805
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Arboleda-Tham Syndrome
Neonatal respiratory distress, Recurrent respiratory infections, Intrauterine growth retardation,... OMIM:616268
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Osteoglophonic Dysplasia
Severe short stature, Rhizomelia, Failure to thrive, Respiratory distress, Growth delay OMIM:166250
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Erythema, Severe short stature, Failure to thrive, Respiratory distress, Respiratory fai... ORPHA:2556
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Leukocytosis ORPHA:31824
8Q24.3 Microdeletion Syndrome
Small for gestational age, Infancy onset short-trunk short stature, Intrauterine growth retardati... ORPHA:508488
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Elevated he... ORPHA:51
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Short stature, Apnea, Respiratory distress, Asthma ORPHA:3206
Mednik Syndrome
Death in childhood, Death in infancy, Neonatal death OMIM:609313
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Cough, Elevated hepatic transaminase, Chronic lung disease, Respiratory distress, Pneumon... ORPHA:95455
Ulbright-Hodes Syndrome
Pulmonary hypoplasia, Severe intrauterine growth retardation, Birth length less than 3rd percenti... ORPHA:3404
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Rhinitis, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Respiratory distress OMIM:305100
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Failure to thrive, Respiratory distress, Iron deficien... ORPHA:358
Primary Hyperoxaluria
Cutis marmorata, Elevated hepatic transaminase, Acrocyanosis, Failure to thrive ORPHA:416
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Moderately short stature, Short stature OMIM:119600
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Pancreatic calcification, Failure to thrive in infancy, Hepatic ... ORPHA:51608
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Asthma, Nasal flaring ORPHA:466943
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Respiratory distress, Hepatomegaly, Splenomegaly OMIM:617088
Doors Syndrome
Sirenomelia, Aspiration pneumonia, Respiratory distress, Spina bifida occulta, Thrombocytosis, Ar... ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Intrauterine growth retardation, Short stature, Failure to thrive, Respiratory distress, Recurren... ORPHA:99646
Cardiac Valvular Dysplasia 1
Cyanosis, Pulmonary artery atresia OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Pulmonary artery atresia, Failure to thrive ORPHA:216694
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Chronic pulmonary obstruction, Truncal obesity, Chronic bronchitis, Hepatomegaly, Delayed menarch... ORPHA:64
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Poor wound healing, Umbilical hernia, Ecchymosis, Prematurely aged appea... ORPHA:287
Plague
Respiratory distress, Hepatomegaly, Splenomegaly, Acute infectious pneumonia ORPHA:707
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Coffin-Lowry Syndrome
Cutis marmorata, Decreased body weight, Short stature, Acrocyanosis OMIM:303600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Delayed puberty, Short stature, Respiratory distress, Recurrent u... ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Acrocyanosis, Apnea ORPHA:285
Pmm2-Cdg
Aspiration pneumonia, Abnormal liver parenchyma morphology, Hepatic fibrosis, Elevated hepatic tr... 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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