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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 Skull Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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MicroCT E18.5

Embryo reconstruction

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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
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Failure to thrive, Cough, ... OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Small for gestational age, Abnormal ... ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... OMIM:265120
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy OMIM:254120
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Weight loss, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Res... ORPHA:1302
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... OMIM:610913
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Asbestos Intoxication
Cyanosis, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackl... ORPHA:2302
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Thromboc... OMIM:619751
Immunodeficiency 95
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... OMIM:619773
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Fa... ORPHA:2257
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Death in childhood, Acrocyanosis OMIM:302000
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:2414
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Apnea, Central Sleep
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration OMIM:207720
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... ORPHA:60032
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Acute Interstitial Pneumonia
Cyanosis, Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honey... ORPHA:79126
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Cyanosis, Transient Neonatal
Cyanosis, Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia 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, Obesity, Respiratory distress, Bronchiolitis OMIM:615993
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Respiratory distress ORPHA:91130
Chronic Pneumonitis Of Infancy
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... ORPHA:91359
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough, Hepatomegaly, Recurrent respiratory... ORPHA:77260
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Failure to thrive, Intrauterine growth retardation, Respiratory distress ORPHA:26792
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... ORPHA:70587
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Intrauterine growth retardation, Respiratory distress ORPHA:1832
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Hyp... ORPHA:79127
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Pulmonary hypoplasia, Respiratory distress, Intrauterine growth retard... OMIM:616733
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Short stature ORPHA:2901
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia, Death in childhood, Intrauterine growt... OMIM:615597
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:178500
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Gro... OMIM:613561
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pu... OMIM:613490
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Severe short stature, Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Respiratory distress, Short stature, Respiratory insufficiency due to musc... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 30
Elevated circulating alanine aminotransferase concentration, Death in infancy, Respiratory distre... OMIM:616974
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... ORPHA:140896
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... OMIM:267450
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... ORPHA:2004
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... ORPHA:411703
Immunoneurologic Disorder, X-Linked
Small for gestational age, Neonatal death OMIM:300076
Slc35A1-Cdg
Pulmonary hemorrhage, Neutropenia, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Abno... ORPHA:238459
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Intraalveolar phospholipid accumulation, Weight loss, Hypoxemia, Crackles, Restrictive ... ORPHA:747
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Abnormal erythrocyte morphology, Central apnea ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Cachexia, Abnormal respiratory sys... ORPHA:60033
Hereditary Methemoglobinemia
Small for gestational age, Cyanosis, Exertional dyspnea, Methemoglobinemia ORPHA:621
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Avian Influenza
Leukopenia, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distress, Elevated ... ORPHA:454836
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Failure to thrive, Restrictive ventilatory defec... OMIM:614399
Stt3B-Cdg
Failure to thrive, Thrombocytopenia, Intrauterine growth retardation, Respiratory distress ORPHA:370924
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... OMIM:610978
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertio... ORPHA:60025
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Ele... ORPHA:210136
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Anemia, Myeloid leukemia, Premature graying of hair, Pancytopenia, Usual interstitial ... OMIM:614742
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... ORPHA:254875
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:254210
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea, Polycythemia, Growth delay, Methemoglobinemia OMIM:250800
Congenital Tricuspid Valve Dysplasia
Cyanosis, Small for gestational age, Hypoxemia, Anomalous pulmonary venous return, Hepatomegaly, ... ORPHA:555874
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Abnormal proportion of CD4-positive T cells, Abnormal res... ORPHA:133
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... ORPHA:922
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy... ORPHA:199241
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Ventilator dependence with inability to wean, Respiratory distress, Hep... ORPHA:254864
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Hemolytic anemia, Death in infancy, Normocytic anemia, Jaundice, Respi... OMIM:615512
Restrictive Dermopathy 2
Cyanosis, Intrauterine growth retardation, Respiratory distress OMIM:619793
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Sepsis In Premature Infants
Cyanosis, Anemia, Decreased body weight, Petechiae, Small for gestational age, Nasal flaring, Jau... ORPHA:90051
Anaplastic Thyroid Carcinoma
Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of... ORPHA:142
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Malaria
Anemia, Thrombocytopenia, Respiratory distress ORPHA:673
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Neonatal death, Death in infancy OMIM:242500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Respiratory distress, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... ORPHA:79312
Gaucher Disease, Perinatal Lethal
Splenomegaly, Hepatic failure, Decreased body weight, Anemia, Petechiae, Purpura, Respiratory dis... OMIM:608013
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... ORPHA:2038
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Respiratory distress, Weight loss OMIM:612075
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Respiratory distress ORPHA:261304
Choanal Atresia
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... ORPHA:137914
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Weight loss, Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventil... ORPHA:2902
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea, Methemoglobinemia ORPHA:464453
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Respiratory distress, Growth delay, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreat... ORPHA:289916
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Weight loss, Interstitial pneumonitis, Hypoxemia, ... 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
Neonatal death, Death in infancy OMIM:617184
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Respiratory... ORPHA:367
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Increased... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Elevated hepatic transaminase, Respiratory distress, Death in infancy OMIM:615042
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Failure to thrive in infancy, Intrauterine growth retardation ORPHA:284417
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Hypoxemia, Respiratory distress ORPHA:2140
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Failure to thrive, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Neonatal death OMIM:615228
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... ORPHA:596
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Failure to... ORPHA:3309
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Small for gestational age, Hypoxemia, Failure to thrive, Anomalous pulmonary venous ret... ORPHA:860
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hepatomeg... OMIM:608799
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Short stature, Respiratory distress, Tracheomalacia, ... OMIM:617180
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Death in infancy, Respiratory distress, Apnea, Failure to thrive, Hypopnea, Neonatal re... OMIM:618426
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria ORPHA:100057
Interstitial Lung And Liver Disease
Respiratory insufficiency, Hepatic fibrosis, Elevated circulating alanine aminotransferase concen... OMIM:615486
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation, Respiratory distress ORPHA:89844
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Tularemia
Anemia, Respiratory distress, Pleural effusion, Cough, Leukocytosis, Thrombocytopenia, Pneumonia ORPHA:3392
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Death in childhood, Death in infancy OMIM:614096
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Death in infancy, Jaundice, Elevate... OMIM:617156
Combined Oxidative Phosphorylation Deficiency 19
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... OMIM:615595
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection OMIM:620011
Congenital Myasthenic Syndrome
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... ORPHA:98914
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Exertional dyspnea, Decreased liver function, Respiratory distress, Failure to thrive, He... OMIM:220110
Auriculocondylar Syndrome 2
Apnea, Snoring, Respiratory distress OMIM:614669
Carnitine Deficiency, Systemic Primary
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Re... OMIM:212140
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Death in infancy, Respiratory distress, Hepatomegaly, Respiratory fail... OMIM:614299
Congenital Laryngeal Web
Short stature, Respiratory distress, Stridor ORPHA:2374
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Nipah Virus Disease
Cough, Respiratory distress, Recurrent pharyngitis ORPHA:99825
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Short stature, Small for gestational age, Exocrine pancreatic ins... OMIM:260400
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Respiratory distress, Tachypnea ORPHA:45452
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Respiratory distress, Pulmonary hypoplasia, Hepatic steatosis, Hepatomegaly, Neonatal d... OMIM:231680
Q Fever
Anemia, Abnormal pulmonary interstitial morphology, Abnormality of the liver, Weight loss, Hepati... ORPHA:781
Holocarboxylase Synthetase Deficiency
Weight loss, Respiratory distress, Growth delay, Thrombocytopenia, Tachypnea ORPHA:79242
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... OMIM:606763
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Prolonged neonatal jaundice, Respiratory distress, Umbilical hernia ORPHA:226313
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Odontochondrodysplasia 1
Short stature, Death in infancy, Pulmonary hypoplasia, Respiratory distress, Mesomelic short stat... OMIM:184260
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Farber Disease
Respiratory insufficiency, Hepatic fibrosis, Hepatic failure, Anemia, Nodular pattern on pulmonar... ORPHA:333
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Episodic tachypnea, Small for gestational age, Jaundice, Elevated hepatic transaminase, Respirato... ORPHA:26793
Double Outlet Right Ventricle
Cyanosis, Short stature, Failure to thrive, Pulmonary artery atresia, Tachypnea ORPHA:3426
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Respiratory distress, Atelectasis, Death in infancy OMIM:300219
Chiari Malformation Type Ii
Cyanosis, Myelomeningocele, Spina bifida, Cervical myelopathy, Inspiratory stridor OMIM:207950
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Encephalopathy, Ethylmalonic
Failure to thrive, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Congenital Enterovirus Infection
Leukopenia, Hepatic failure, Anemia, Abnormal macrophage morphology, Hepatitis, Respiratory distr... ORPHA:292
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Diaphanospondylodysostosis
Respiratory insufficiency, Abnormal liver lobulation, Respiratory distress, Pulmonary hypoplasia,... OMIM:608022
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec... OMIM:211530
Esophageal Atresia
Cyanosis, Bronchitis, Aspiration, Small for gestational age, Respiratory distress, Chronic pulmon... ORPHA:1199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... ORPHA:308552
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Myeloprolifera... ORPHA:3260
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Respiratory distress, Failure to thrive, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:251000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... ORPHA:99106
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Rhizomelia, Respiratory distress, Hepatic steatosis, Recurrent pneumonia, Growth dela... OMIM:616271
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Respiratory distress, Hepatomegaly, Pulmonary fibrosis, Failure to thrive in infanc... OMIM:612852
Odontochondrodysplasia
Respiratory distress, Short stature, Death in infancy ORPHA:166272
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Abnormal pleura morphology, Weight loss, Asthma, Purpura, Acrocyanosis... ORPHA:183
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in childhood, Death in infancy OMIM:619334
Goodpasture Syndrome
Cyanosis, Anemia, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Exertional dyspnea, ... OMIM:233450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Irregular respiration, Respiratory distress, Hepatomegaly, Inspiratory stridor OMIM:604377
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Hepatomegaly, Recurrent r... ORPHA:329178
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Acrocyanosis, Weight loss, Eosinophilia ORPHA:3165
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Toxic Epidermal Necrolysis
Anemia, Abnormal pleura morphology, Neutropenia, Weight loss, Recurrent respiratory infections, E... ORPHA:537
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Anemia, Recurrent respiratory infections, Recurrent bronchopulmonary in... OMIM:617303
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Upper airway obstruction, Respiratory distress OMIM:612776
Tarp Syndrome
Cyanosis, Pulmonary hypoplasia, Apnea, Failure to thrive, Extramedullary hematopoiesis, Intrauter... ORPHA:2886
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Cough ORPHA:86812
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly... ORPHA:159
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis, Growth delay, Short stature ORPHA:1867
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Meckel Syndrome 14
Cyanosis, Hepatic fibrosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest, Occipit... OMIM:619879
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Hepatomegaly ORPHA:927
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Acrocyanosis, Growth delay OMIM:614407
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Rhizomelia, Respiratory distress, Dispr... OMIM:616482
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Arnold-Chiari Malformation Type Ii
Meningocele, Cyanosis, Myelomeningocele, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Cyanosis, Anomalous origin of left pulmonary artery from ascendi... ORPHA:99050
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Elevated hepatic t... ORPHA:348
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Short stature, Asthm... ORPHA:209905
Thyroid Lymphoma
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor ORPHA:97285
Methylmalonic Aciduria, Cblb Type
Anemia, Respiratory distress, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... OMIM:251110
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Pulmonary... ORPHA:980
Waardenburg Syndrome Type 3
Tracheomalacia, Acrocyanosis, Atelectasis ORPHA:896
Congenital Fibrinogen Deficiency
Splenic rupture, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, Fingerpad telangi... OMIM:187300
Buerger Disease
Acrocyanosis ORPHA:36258
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Failure to thrive, Dyspnea, Growth delay, Respiratory failure ORPHA:2707
Methylmalonic Aciduria, Cbla Type
Anemia, Respiratory distress, Pancytopenia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... OMIM:251100
Congenital Tracheal Stenosis
Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... ORPHA:141127
Ethylmalonic Encephalopathy
Failure to thrive, Acrocyanosis, Petechiae ORPHA:51188
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Respiratory distress, Growth delay OMIM:619272
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Respiratory distress, R... OMIM:274150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Rhizomelia, Pulmonary hypoplasia, Respiratory distress, Stillbirth, Neonatal short-limb short sta... OMIM:151210
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Acrocyanosis, Growth delay, Erythema, Hepatomegaly, Peritonitis, Urticaria ORPHA:343
Aicardi-Goutieres Syndrome 1
Petechiae, Short stature, Purpura, Elevated hepatic transaminase, Acrocyanosis, Thrombocytopenia,... OMIM:225750
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cyanosis, Hepatic failure, Death in infancy, Apnea, Failure to thrive,... OMIM:252010
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia, Recurrent respiratory infections, Hepatitis, Interstitial pneumonitis, Neutropenia i... ORPHA:37042
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Leigh Syndrome With Cardiomyopathy
Anemia, Decreased liver function, Respiratory distress, Apnea, Failure to thrive, Central hypoven... ORPHA:70474
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Respiratory distress, Hepatomegaly OMIM:619383
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy OMIM:613730
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Bacterial Toxic-Shock Syndrome
Respiratory tract infection, Hepatitis, Increased circulating metamyelocyte count, Respiratory di... ORPHA:36234
Lujo Hemorrhagic Fever
Leukopenia, Rhinitis, Fulminant hepatitis, Elevated hepatic transaminase, Respiratory distress, P... ORPHA:319213
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Craniofaciofrontodigital Syndrome
Pulmonary arterial hypertension, Palmoplantar cutis laxa, Short stature, Premature skin wrinkling... ORPHA:363705
Fanconi Anemia, Complementation Group O
Neonatal death, Miscarriage, Death in infancy OMIM:613390
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory insufficiency, Respiratory distress ORPHA:1145
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis... ORPHA:99104
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... ORPHA:98915
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Severe failure to thrive ORPHA:3304
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Short stature, Respiratory distress, Macrocytic anemia OMIM:606164
Mogs-Cdg
Hypoventilation, Pulmonary edema, Respiratory distress, Hepatosplenomegaly, Apnea, Hepatomegaly, ... ORPHA:79330
Poems Syndrome
Pulmonary arterial hypertension, Weight loss, Acrocyanosis, Polycythemia, Pleural effusion, Restr... ORPHA:2905
Isolated Right Ventricular Hypoplasia
Dyspnea, Cyanosis, Hypoxemia ORPHA:439
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature OMIM:617102
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Respiratory distress, ... ORPHA:2330
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Fucosidosis
Abnormality of the gallbladder, Acrocyanosis, Failure to thrive, Hepatomegaly, Vascular skin abno... ORPHA:349
Agnathia-Otocephaly Complex
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress OMIM:202650
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Short stature, Pulmonary artery hypoplasia, Delayed puberty, Growth delay ORPHA:2326
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Ethylene Glycol Poisoning
Cyanosis, Pulmonary edema, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea ORPHA:31826
Lymphatic Malformation 7
Anemia, Pulmonary edema, Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Acquired Purpura Fulminans
Macular purpura, Hepatic failure, Thrombocytopenia, Acrocyanosis ORPHA:49566
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Respirato... ORPHA:365
Nocardiosis
Pneumothorax, Productive cough, Weight loss, Liver abscess, Pleuritis, Respiratory distress, Emph... ORPHA:31204
Hemorrhagic Fever-Renal Syndrome
Anemia, Decreased body weight, Petechiae, Pulmonary edema, Elevated hepatic transaminase, Respira... ORPHA:340
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Jaundice, Respiratory ... ORPHA:79282
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Asplenia, Biliary atresia, Bilateral trilobed lung, Myelomeningocele, Polysplenia, Resp... OMIM:306955
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis OMIM:160900
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema, Failure to thrive, Cough, Hepatomegaly, Tachypnea ORPHA:137675
Myasthenia Gravis
Hemolytic anemia, Hepatitis, Acrocyanosis, Dyspnea, Pure red cell aplasia ORPHA:589
Truncus Arteriosus
Cyanosis, Hypoplasia of the thymus, Anomalous origin of one pulmonary artery from ascending aorta... ORPHA:3384
Telangiectasia, Hereditary Hemorrhagic, Type 2
Pulmonary arterial hypertension, Cyanosis, Cirrhosis, Hepatic arteriovenous malformation, Facial ... OMIM:600376
Radio-Renal Syndrome
Respiratory distress, Pleural effusion, Severe short stature, Dyspnea, Chylothorax, Respiratory f... ORPHA:3015
Dravet Syndrome
Cyanotic episode ORPHA:33069
Achondroplasia
Rhizomelia, Death in infancy, Pulmonary hypoplasia, Respiratory distress, Upper airway obstructio... OMIM:100800
Rodrigues Blindness
Nasal flaring, Short stature, Ectodermal dysplasia OMIM:268320
Scimitar Syndrome
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Res... ORPHA:185
Cryptococcosis
Cirrhosis, Nodular pattern on pulmonary HRCT, Lymphoid leukemia, Respiratory distress, Pleural ef... ORPHA:1546
Chromosome 6Q24-Q25 Deletion Syndrome
Growth delay, Intrauterine growth retardation, Respiratory distress OMIM:612863
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Afibrinogenemia, Congenital
Neonatal death, Death in childhood, Death in infancy, Death in adolescence OMIM:202400
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Kniest Dysplasia
Rhizomelia, Respiratory distress, Tracheomalacia, Disproportionate short-trunk short stature, Umb... OMIM:156550
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Diamond-Blackfan Anemia 10
Anemia, Steroid-responsive anemia, Reticulocytopenia, Short stature, Respiratory distress, Growth... OMIM:613309
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Dyspnea, Respiratory distress, Hepatomegaly OMIM:115197
Boomerang Dysplasia
Neonatal death OMIM:112310
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Nasolacrimal Duct Cyst
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... ORPHA:141083
Fetal Gaucher Disease
Neonatal death, Stillbirth, Death in infancy ORPHA:85212
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Meier-Gorlin Syndrome 1
Birth length less than 3rd percentile, Death in infancy, Small for gestational age, Respiratory d... OMIM:224690
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Respiratory distress, Pulmonary hy... ORPHA:83617
Dermatomyositis
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Abnormal ... ORPHA:221
Osteogenesis Imperfecta, Type X
Rhizomelia, Short stature, Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death... OMIM:613848
Infantile Krabbe Disease
Respiratory failure, Failure to thrive, Cachexia, Respiratory distress ORPHA:206436
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hypoventilation, Recurrent lower respiratory tract infections, Short stature, Asthma, E... ORPHA:293987
Moebius Syndrome
Respiratory distress OMIM:157900
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Listeriosis
Hepatic granulomatosis, Liver abscess, Jaundice, Granulomatosis, Respiratory distress, Miscarriag... ORPHA:533
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Polysplenia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Pulm... OMIM:616749
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Respiratory distress, Apnea, Failure to thrive, Hepatic steatosis,... ORPHA:17
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Eisenmenger Syndrome
Pulmonary arterial hypertension, Cyanosis, Abnormality of the liver, Exertional dyspnea, Aortopul... ORPHA:97214
Lymphatic Malformation 12
Neonatal death, Death in adolescence OMIM:620014
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Pulmonary arterial hypertension, Leukopenia, Anemia, Respiratory distress, Hepatosplenomegaly, Ai... ORPHA:505248
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Small for gestatio... ORPHA:2255
Arterial Tortuosity Syndrome
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Pulmonary artery stenosis, Telangiectasi... ORPHA:3342
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Repeated pneumothoraces, Respiratory distress, Bruising susceptibility... ORPHA:536467
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Familial Dysautonomia
Abnormal pleura morphology, Acrocyanosis, Abnormality of the peritoneum, Growth delay, Recurrent ... ORPHA:1764
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Pneumothorax, Respiratory distress, Failure to thrive, Fragile skin, Dyspnea, Growth dela... ORPHA:79404
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Abnormality of the pancreas, Respiratory distress, Umbilical hernia ORPHA:1555
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Congenital Total Pulmonary Venous Return Anomaly
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Cardiac total anomalous pulmonary ... ORPHA:99125
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Dyspnea, Inspiratory stridor, Urticaria ORPHA:100050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Acrocyanosis, Decreased sensitivity to hypoxemia, Growth ... OMIM:223900
Japanese Encephalitis
Respiratory paralysis, Pulmonary edema, Irregular respiration, Neutrophilia, Respiratory distress... ORPHA:79139
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Respiratory distre... ORPHA:79329
Oculopharyngodistal Myopathy 1
Weight loss, Aspiration, Reduced forced vital capacity, Respiratory distress, Hypercapnia, Restri... OMIM:164310
Ear-Patella-Short Stature Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Dyspnea, Growth delay, Respiratory... ORPHA:2554
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Short stature, Respiratory distress, Obesity, Intrauterine grow... ORPHA:177907
Abcd Syndrome
Neonatal death OMIM:600501
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Cervical myelopathy, Neonatal short-trunk s... OMIM:183900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Recurrent respiratory infections, Respiratory distress, Short stature OMIM:300968
Ramos-Arroyo Syndrome
Severe short stature, Decreased body weight, Respiratory distress, Severe failure to thrive ORPHA:1051
Pitt-Hopkins Syndrome
Acrocyanosis, Failure to thrive, Abnormal pattern of respiration, Growth delay, Sleep apnea, Hype... ORPHA:2896
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Wheezing, Respiratory distress, Diffuse alveolar hemorrhage, Cough... ORPHA:90068
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Palate telangiectasia, Nasal mucosa telangiectasia, Spontaneous, recurrent epistaxis, P... OMIM:610655
Unilateral Polymicrogyria
Epistaxis, Cyanosis, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Decreased body weight, Central sleep apnea, Elevated hepatic transaminase, Resp... OMIM:615273
Coccidioidomycosis
Abnormality of the liver, Pleural empyema, Peritonitis, Exudative pleural effusion, Respiratory d... ORPHA:228123
Aortic Arch Interruption
Cyanosis, Aortopulmonary window, Exertional dyspnea, Respiratory distress, Tachypnea ORPHA:2299
Alternating Hemiplegia Of Childhood
Aspiration, Respiratory distress, Flushing, Apnea, Failure to thrive ORPHA:2131
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
Neonatal death, Death in infancy OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Auriculocondylar Syndrome
Snoring, Obstructive sleep apnea, Respiratory distress ORPHA:137888
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Tracheomalacia, Respiratory distress OMIM:217980
Campomelic Dysplasia
Tracheobronchomalacia, Spinal dysraphism, Spina bifida, Respiratory distress, Apnea, Failure to t... OMIM:114290
Biotinidase Deficiency
Apnea, Hyperventilation, Myelopathy, Respiratory distress ORPHA:79241
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Asplenia, Absent gallbladder, Respiratory distress, Annular panc... ORPHA:210122
Adnp Syndrome
Short stature, Aspiration, Respiratory distress, Recurrent upper respiratory tract infections, Tr... ORPHA:404448
Hyperparathyroidism, Transient Neonatal
Splenic cyst, Respiratory distress, Umbilical hernia OMIM:618188
Mitochondrial Dna-Associated Leigh Syndrome
Hepatic failure, Apnea, Failure to thrive, Dyspnea, Hepatomegaly, Hyperventilation, Episodic resp... ORPHA:255210
Rubinstein-Taybi Syndrome 1
Respiratory tract infection, Short stature, Spina bifida, Small for gestational age, Respiratory ... OMIM:180849
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Leptospirosis
Pulmonary hemorrhage, Hepatitis, Jaundice, Respiratory distress, Pleural effusion, Thrombocytopen... ORPHA:509
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Postinfectious Vasculitis
Weight loss, Palpable purpura, Acrocyanosis, Vasculitis in the skin, Cutis marmorata, Recurrent s... ORPHA:48435
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Erythema, Neonata... OMIM:614748
Atrioventricular septal defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Hutchinson-Gilford Progeria Syndrome
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Weight loss, Prominent superficial... ORPHA:740
Schinzel-Giedion Syndrome
Myeloid leukemia, Neural tube defect, Respiratory distress, Pulmonary hypoplasia, Hepatoblastoma,... ORPHA:798
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Tuberous Sclerosis Complex
Respiratory tract infection, Hepatic cysts, Respiratory distress, Respiratory failure, Pulmonary ... ORPHA:805
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Respiratory distress, Growth delay, Neonatal respiratory distress... OMIM:616268
Pfeiffer Syndrome Type 2
Tracheomalacia, Respiratory distress ORPHA:93259
Osteoglophonic Dysplasia
Rhizomelia, Failure to thrive, Respiratory distress OMIM:166250
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress, Leukocytosis ORPHA:31824
Pfeiffer Syndrome Type 3
Tracheomalacia, Respiratory distress ORPHA:93260
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Failure to thrive, Severe short stature, Dyspnea, Growth delay, Erythema, R... ORPHA:2556
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Short stature, Arrhinencephaly, Acrocyanosis, Elevated hepatic transa... ORPHA:51
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Short stature, Small for gestational age, Exocrine pancr... ORPHA:508488
Mednik Syndrome
Neonatal death, Death in childhood, Death in infancy OMIM:609313
Stüve-Wiedemann Syndrome
Short stature, Asthma, Respiratory distress, Apnea, Intrauterine growth retardation ORPHA:3206
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Rhinitis, Neutropenia, Elevated hepatic transaminase, Respiratory distress, Cough, Respir... ORPHA:95455
Ulbright-Hodes Syndrome
Pneumothorax, Birth length less than 3rd percentile, Pulmonary hypoplasia, Respiratory distress, ... ORPHA:3404
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress OMIM:305100
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Failure to thrive, Delayed puberty, Iron deficien... ORPHA:358
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Primary Hyperoxaluria
Failure to thrive, Acrocyanosis, Elevated hepatic transaminase, Cutis marmorata ORPHA:416
Cleidocranial Dysplasia 1
Neonatal respiratory distress, Moderately short stature, Respiratory distress, Short stature OMIM:119600
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Cyanosis, Pancreatic calcification, Respiratory distress, Hepati... 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, Respiratory distress, Hepatomegaly, Short stature OMIM:617088
Doors Syndrome
Aspiration pneumonia, Arrhinencephaly, Respiratory distress, Spina bifida occulta, Sirenomelia, T... ORPHA:79500
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, Short stature, Respiratory distress, Recurrent pneumonia, Failure ... ORPHA:99646
Cardiac Valvular Dysplasia 1
Cyanosis, Pulmonary artery atresia OMIM:212093
Isolated Arrhinia
Respiratory distress ORPHA:1134
Alström Syndrome
Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Hepat... ORPHA:64
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Failure to thrive, Pulmonary artery atresia ORPHA:216694
Plague
Splenomegaly, Respiratory distress, Hepatomegaly, Acute infectious pneumonia ORPHA:707
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearance, Poo... ORPHA:287
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Coffin-Lowry Syndrome
Acrocyanosis, Decreased body weight, Cutis marmorata, Short stature OMIM:303600
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Short stature, Respiratory distress, Recurrent upper and lower re... ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis, Umbilical hernia ORPHA:285
Visceral Steatosis, Congenital
Neonatal death OMIM:228100
Pmm2-Cdg
Hepatic fibrosis, Aspiration pneumonia, Abnormal subcutaneous fat tissue distribution, Impaired n... 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

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

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