Gene: Ola1 MGI:1914309

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Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Ola1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ola1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Hemoptysis, Pulmonary... ORPHA:64741
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p... OMIM:265120
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Cyanosis And Hepatic Disease
Hepatitis, Cyanosis, Dyspnea OMIM:219400
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Severe short stature OMIM:302000
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress, Short nose, Respiratory failure, Intrauterine growth retardation, ... ORPHA:1832
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia, Cyanosis OMIM:613977
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis, Respiratory distress, Failure to thrive OMIM:615595
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Growth delay, Cough, Hepat... ORPHA:2414
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Hepatic steatosis, Respiratory distress, Failure to thrive ORPHA:26792
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Failure to thrive ORPHA:91130
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Gaucher Disease Type 2
Respiratory distress, Cough, Hepatomegaly, Splenomegaly, Abnormal pattern of respiration, Recurre... ORPHA:77260
Neuralgic Amyotrophy
Acrocyanosis, Short stature, Respiratory insufficiency ORPHA:2901
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Respiratory insufficiency, Respiratory fail... OMIM:614399
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pulmonary arterial h... ORPHA:70588
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Pulmonary hypoplasia, Small for gestational a... OMIM:616733
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Thrombocytopenia, Decreased liver function, Death in childhood, Failure to ... OMIM:615597
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Elevated hepatic transaminase, Chronic pulmonary obstruction, Hepat... OMIM:613490
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Severe short stature, Lymphocytic interstitial pneumonia, Failure to thrive, Respiratory distress OMIM:245590
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Eleva... OMIM:178500
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Short stature, Decreased body weight, Respirato... OMIM:300580
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Growth delay, Cough, Decreased propo... ORPHA:1549
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Neutropenia, Thrombocytopenia, Subcutaneou... ORPHA:238459
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Central apnea ORPHA:71277
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge, Failure to thrive, Intrauterine growth ret... ORPHA:261304
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Laryngotracheal stenosis, Cough, Weight loss, Upper airway obstruc... ORPHA:142
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Fa... ORPHA:254875
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Stt3B-Cdg
Intrauterine growth retardation, Thrombocytopenia, Respiratory distress, Failure to thrive ORPHA:370924
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of h... OMIM:614742
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Avian Influenza
Ground-glass opacification, Dyspnea, Elevated hepatic transaminase, Respiratory distress, Pleural... ORPHA:454836
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Abnormality of the hepatic vasculature, Restrictive ventilatory defect, Dy... ORPHA:210136
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Polycythemia, Growth delay, Methemoglobinemia, Cyanosis OMIM:250800
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress, Short stature OMIM:618006
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Hypoxemia,... ORPHA:555874
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Congenital Laryngeal Web
Stridor, Respiratory distress, Short stature, Laryngomalacia ORPHA:2374
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Short stature, ... OMIM:617180
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Short nose, Respiratory distress, Death in infancy, Neonatal respi... OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation, Obesity OMIM:257500
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Pulmonary hemorrhage, Dyspnea, Hemothorax, Telangiectasia, Cough, Hypoxem... ORPHA:2038
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt... ORPHA:90060
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Leukocytosis, Decreased pulmonary function, Neu... ORPHA:90051
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Failure to thriv... ORPHA:79312
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Gaucher Disease, Perinatal Lethal
Apnea, Short nose, Respiratory distress, Purpura, Decreased body weight, Hepatomegaly, Desquamati... OMIM:608013
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Leukocytosis, Pleural effusion,... ORPHA:3392
Malaria
Thrombocytopenia, Respiratory distress, Anemia ORPHA:673
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Failure to thrive, Splenomegal... OMIM:608799
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Growth delay, Neutropenia, Hepatomegaly, Thrombocytopenia, Pancreatitis, An... ORPHA:289916
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Wide nasal bridge, Intrauterine growth retardation, Hypoplastic spleen, Wid... ORPHA:89844
Acquired Methemoglobinemia
Dyspnea, Respiratory distress, Hypoxemia, Methemoglobinemia, Cyanosis ORPHA:464453
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Cyanotic episode, Failure to thrive in infancy, Depressed nasal ... ORPHA:284417
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Weight loss, Desquamation of skin soon after birth, Thrombocy... ORPHA:79242
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Elevated hepatic transaminase, Hepat... OMIM:615486
Succinic Acidemia
Respiratory distress OMIM:600335
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice, Large for gestational age, D... ORPHA:226313
Hereditary Methemoglobinemia
Methemoglobinemia, Cyanosis, Small for gestational age, Exertional dyspnea ORPHA:621
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Tetrasomy 5P
Short nose, Respiratory distress, Postnatal growth retardation, Wide nasal bridge, Pulmonary hypo... ORPHA:3309
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Odontochondrodysplasia
Respiratory distress, Short nose, Death in infancy, Short stature, Depressed nasal bridge ORPHA:166272
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Cirrhosis, Elevated hepatic transaminase, Generalized abnormality of skin, Respiratory distress, ... ORPHA:367
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Nasal polyposis, Cough, Recurrent intrapulmona... ORPHA:183
Farber Disease
Elevated hepatic transaminase, Respiratory distress, Recurrent upper respiratory tract infections... ORPHA:333
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Failure to thrive, Cyanosis, Stridor ORPHA:444013
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hepatomegaly, Jaundice, Neonatal death, Pulmonary hypopl... OMIM:231680
Diaphanospondylodysostosis
Short nose, Respiratory distress, Tracheomalacia, Respiratory insufficiency, Abnormal liver lobul... OMIM:608022
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Hepatic steatosis, Hepatomegaly, Hepatic failure, Cyanosis OMIM:261680
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Abn... ORPHA:1199
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Growth delay, Failure to thrive, Prominent nose OMIM:614407
Double Outlet Right Ventricle
Short stature, Failure to thrive, Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal ... ORPHA:3426
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Respiratory distress, Persisten... OMIM:260400
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:98914
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Hepatomegaly, Pulmonary venous hypertensi... ORPHA:1329
Idiopathic Neonatal Atrial Flutter
Tachypnea, Large for gestational age, Respiratory distress ORPHA:45452
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Eosinophilic Fasciitis
Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Odontochondrodysplasia 1
Respiratory distress, Mesomelic short stature, Death in infancy, Pulmonary hypoplasia, Short stat... OMIM:184260
Q Fever
Elevated hepatic transaminase, Respiratory distress, Purpura, Pleural effusion, Cough, Pneumonia,... ORPHA:781
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Anomal... ORPHA:141127
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Pleural effusion, Abnormal macrophage morphology, Neutropenia... ORPHA:292
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Exertional dyspnea, Increased hepatocellular lipid droplets, Respiratory in... OMIM:220110
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Macrovesicular hepatic steatosis, Neutropenia, Wide nasal bridge, Recurrent... OMIM:617303
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Short nose, Respiratory distress, Hepatomegaly, Failure to thrive,... ORPHA:329178
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Cough, Chronic hepatitis, Pulmonary embolism, Cutis marmorata, Anemia, Ne... ORPHA:3260
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Pneumonia, H... ORPHA:26793
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Failure to thrive, Hemoptysis, Pulmona... ORPHA:99106
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short stature, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Dermatological manifestations of systemic d... ORPHA:97287
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Elevated hepatic transaminase, Respiratory distress, Abnormal ple... ORPHA:537
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Recurrent respiratory infectio... OMIM:211530
Hypoglossia With Situs Inversus
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress OMIM:612776
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Death in childhood OMIM:619334
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Elevated circulating alanine aminotransferase ... ORPHA:308552
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis, Failure to thrive in infancy, Hepatomegaly, Splenomegal... OMIM:612852
Tarp Syndrome
Apnea, Extramedullary hematopoiesis, Wide nasal bridge, Pulmonary hypoplasia, Failure to thrive, ... ORPHA:2886
Buerger Disease
Acrocyanosis ORPHA:36258
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Growth delay, Pneumonia, Short stature ORPHA:1867
Chiari Malformation Type Ii
Inspiratory stridor, Spina bifida, Myelomeningocele, Cyanosis OMIM:207950
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Failure to thriv... OMIM:251110
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Failure to thrive OMIM:602473
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Failure to thrive ORPHA:51188
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Short nose, Failure to thrive, Narrow nasal bridge ORPHA:544503
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Respiratory distress, Failure to thrive ORPHA:927
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Elevated hepatic transaminase, Purpura, Hepatomegaly, Prolonged neonatal jaundice, ... OMIM:225750
Lymphatic Malformation 7
Pulmonary edema, Anemia, Respiratory distress OMIM:617300
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Acrocyanosis, Purpura, Growth delay, Erythema, Hepatomegaly, Urticaria ORPHA:343
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Sudden episodic apnea, Respiratory insufficiency, Hepatomegaly, He... ORPHA:159
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Growth delay, Pulmonary arterial hypertension, Abnormal... ORPHA:209905
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Neutropenia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Failure to thriv... OMIM:251100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Short nose, Respiratory distress, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Hereditary Angioedema Type 1
Dyspnea, Abnormal respiratory system morphology, Respiratory distress, Inspiratory stridor, Phary... ORPHA:100050
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated hepatic transaminase, Bulbous nose, Respiratory distress, Macrovesicular hepatic ... OMIM:608836
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Short stature, Narrow nasal bridge OMIM:268320
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Episodic tachypn... ORPHA:348
Arnold-Chiari Malformation Type Ii
Apnea, Inspiratory stridor, Pneumonia, Meningocele, Cyanosis, Myelomeningocele ORPHA:1136
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress, Growth delay, Respiratory failure, Failure to thrive ORPHA:2707
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Intrauterine gro... OMIM:266910
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Polycythemia, Wei... ORPHA:2905
Diamond-Blackfan Anemia 10
Respiratory distress, Growth delay, Choanal atresia, Reticulocytopenia, Anemia, Short stature, Ma... OMIM:613309
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis, Wide nasal bridge ORPHA:3304
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Prolonged neonatal jaun... OMIM:274150
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Hepatomegaly, Failure to thrive, Abnormality of the gall... ORPHA:349
Bacterial Toxic-Shock Syndrome
Peritonitis, Respiratory tract infection, Ecchymosis, Respiratory distress, Pneumonia, Increased ... ORPHA:36234
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Cyanosis OMIM:250790
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Umbilical hernia, Disproportionate short-trunk short statur... OMIM:156550
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Granulocytopenia, Respiratory distress, Short stature, Macrocytic anemia OMIM:606164
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Growth delay, Respiratory distress, Failure to thrive OMIM:619272
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Nocardiosis
Peritonitis, Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Pleural effusion, Emphyse... ORPHA:31204
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Central hypoventilation, Decreased liver function, Respiratory failu... ORPHA:70474
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Anemia, Pulmonary arterial h... OMIM:187300
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Myasthenia Gravis
Acrocyanosis, Pure red cell aplasia, Dyspnea, Hemolytic anemia, Hepatitis ORPHA:589
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Respiratory distress, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death OMIM:611890
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy, Recurrent respiratory ... OMIM:301790
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Respiratory distress, Wide nasal bridge, Hepatomegaly, Anteverted nares, Recurrent re... OMIM:619383
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Splenic rupture ORPHA:335
Microlissencephaly-Micromelia Syndrome
Short nose, Failure to thrive, Respiratory distress ORPHA:50810
Campomelic Dysplasia
Apnea, Disproportionate short-limb short stature, Respiratory distress, Tracheobronchomalacia, Fa... OMIM:114290
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Dermatomyositis
Acrocyanosis, Pulmonary fibrosis, Cutaneous photosensitivity, Weight loss, Erythema, Abnormal pul... ORPHA:221
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Severe short stature, Respiratory failure, Chylo... ORPHA:3015
Tetanus
Tachypnea, Laryngospasm, Respiratory distress ORPHA:3299
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura, Thrombocytopenia, Hepatic failure ORPHA:49566
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia, Failure t... OMIM:306955
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Moebius Syndrome
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge OMIM:157900
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Kallmann Syndrome-Heart Disease Syndrome
Growth delay, Pulmonary artery hypoplasia, Delayed puberty, Short stature, Cyanosis ORPHA:2326
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obstructive sleep apnea, Hypoventilation, Elevated hepatic transaminase, Cardiorespiratory arrest... ORPHA:293987
Myotonic Dystrophy 1
Respiratory distress, Cholelithiasis OMIM:160900
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death OMIM:228940
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Growth delay, Pulmonary arterial hypertension, Neutro... ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death OMIM:619003
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Respiratory distress, Underdeveloped nasal alae, Cholelithiasis, Wide n... ORPHA:83617
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Pulmo... ORPHA:3384
Histiocytoid Cardiomyopathy
Cough, Hepatomegaly, Laryngeal web, Pulmonary edema, Failure to thrive, Tachypnea, Cyanosis ORPHA:137675
Cryptococcosis
Peritonitis, Cirrhosis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodula... ORPHA:1546
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death OMIM:224410
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Elevated circ... ORPHA:365
Infantile Krabbe Disease
Respiratory distress, Laryngomalacia, Respiratory failure, Cachexia, Failure to thrive ORPHA:206436
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Boomerang Dysplasia
Neonatal death OMIM:112310
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cirrhosis, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Hep... OMIM:600376
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Choanal atresia, Umbilical hernia, Abnormality of the pancreas, Anteverted ... ORPHA:1555
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bulbous nose, Respiratory distress, Choanal atresia, Wide nasal bridge, Short stature, Prominent ... OMIM:300968
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Anteverted nares, Growth delay, Postnatal growth retardation, Failure ... ORPHA:2896
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Respiratory distress, Choanal atresia, Short stature, Anteverted nares OMIM:610536
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Growth delay, Abnormality of the peritoneum, Recurrent ... ORPHA:1764
Ramos-Arroyo Syndrome
Respiratory distress, Severe short stature, Decreased body weight, Severe failure to thrive, Ante... ORPHA:1051
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Respiratory distress, Thrombocytopenia, Leukopenia, Anemia, Pulmonary arterial hypert... ORPHA:505248
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Dravet Syndrome
Cyanotic episode ORPHA:33069
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Growth delay, Decreased sensitivity to hypoxemia, Recurrent infections due to aspir... OMIM:223900
Fetal Gaucher Disease
Neonatal death, Death in infancy, Stillbirth ORPHA:85212
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Stillbirth OMIM:236500
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal death, Death in childhood, Death in infancy OMIM:245400
Pfeiffer Syndrome Type 2
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93259
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Failure to thrive in infancy ORPHA:488627
Prader-Willi Syndrome Due To Translocation
Short nose, Respiratory distress, Obesity, Prominent nose, Short stature, Broad nasal tip, Intrau... ORPHA:177907
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Growth delay, Pneumonia, Laryngeal stenosis, Fragile skin, Respira... ORPHA:79404
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Respiratory distress, Purpura, Hypopnea, Reticulocytosis, Neut... ORPHA:2330
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Asplenia, Pulmonary arterial hypertension, Absent gallbladder, Tracheoesoph... ORPHA:210122
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Respiratory distress, Aplasia/Hypoplasia of the gallbladder, B... ORPHA:2255
Faciocardiomelic Dysplasia, Lethal
Neonatal death OMIM:227270
Congenital Disorder Of Deglycosylation
Central sleep apnea, Elevated hepatic transaminase, Respiratory distress, Decreased body weight, ... OMIM:615273
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Choanal atresia, Anteverted nares, Depressed nasal... OMIM:123790
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Respiratory distress ORPHA:990
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory distress, Bruising susceptibility, Trache... ORPHA:536467
Pfeiffer Syndrome Type 3
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93260
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Elevated hepatic transaminase, Respiratory distress, Hepatic steatosis, Growth delay, Hepa... ORPHA:17
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Respiratory distress, Short nose, Cardiorespiratory arrest,... ORPHA:3342
Coccidioidomycosis
Peritonitis, Respiratory distress, Parenchymal consolidation, Cough, Exudative pleural effusion, ... ORPHA:228123
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Wheezing, Respiratory distress, Exertional... ORPHA:97214
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Broad nasal tip, Anteverted n... ORPHA:438216
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Diffuse alveolar hemorrhage, Pulmonary edema, Hemoptysis, ... ORPHA:90068
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Scimitar Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Respiratory... ORPHA:185
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory distress, Growth delay, Severe short stature, Respiratory failure, Failure t... ORPHA:2554
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Heterotaxy, Visceral, 7, Autosomal
Polysplenia, Pulmonary artery hypoplasia, Pulmonary artery atresia, Cyanosis, Total anomalous pul... OMIM:616749
Osteoglophonic Dysplasia
Short nose, Abnormal nasopharynx morphology, Respiratory distress, Rhizomelia, Failure to thrive,... OMIM:166250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Neonatal death OMIM:601376
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Pulmonary edema, Abnormal pat... ORPHA:79139
Thanatophoric Dysplasia, Type Ii
Neonatal death OMIM:187601
Meier-Gorlin Syndrome 1
Respiratory distress, Birth length less than 3rd percentile, Small for gestational age, Failure t... OMIM:224690
Leptospirosis
Pulmonary hemorrhage, Elevated serum transaminases during infections, Respiratory distress, Pleur... ORPHA:509
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Biotinidase Deficiency
Apnea, Respiratory distress, Hyperventilation, Laryngeal stridor ORPHA:79241
Listeriosis
Peritonitis, Respiratory distress, Splenic abscess, Pneumonia, Jaundice, Respiratory failure, Cho... ORPHA:533
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... OMIM:610655
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Flushing, Failure to thrive, Aspiration ORPHA:2131
Unilateral Polymicrogyria
Apnea, Pulmonary arteriovenous malformation, Cyanosis, Epistaxis ORPHA:268943
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress, Neonatal short-trunk short stature OMIM:183900
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hepatomegaly, Failure to thrive, Hepatic failure, ... ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Umbilical hernia, Truncal obe... ORPHA:404448
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Respiratory distress, Hypohidrotic ectodermal dysplasia, R... OMIM:305100
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Short stature, Splenomegaly, Depressed nasal bridge OMIM:617088
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Erythema, Abnormal pulmonary interstitial morphology, Fragile skin, Neonata... OMIM:614748
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Schinzel-Giedion Syndrome
Myeloid leukemia, Broad nasal tip, Short nose, Respiratory distress, Hepatoblastoma, Umbilical he... ORPHA:798
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Growth delay, Severe short stature, Erythema, Wide nasal bridge, R... ORPHA:2556
Tuberous Sclerosis Complex
Respiratory tract infection, Generalized abnormality of skin, Respiratory distress, Hepatic cysts... ORPHA:805
Glutamine Deficiency, Congenital
Neonatal death OMIM:610015
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Thanatophoric Dysplasia, Type I
Neonatal death OMIM:187600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal bronchus morphology, Elevated hepatic transaminase, Generalized abnormality of skin, Res... ORPHA:95455
Bresek Syndrome
Neonatal death ORPHA:85284
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Broad nasal tip, Intrauterine growth retarda... OMIM:616268
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Cleidocranial Dysplasia
Moderately short stature, Respiratory distress, Hypoplastic frontal sinuses, Neonatal respiratory... OMIM:119600
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Primary Hyperoxaluria
Acrocyanosis, Failure to thrive, Elevated hepatic transaminase, Cutis marmorata ORPHA:416
Aicardi-Goutières Syndrome
Acrocyanosis, Elevated hepatic transaminase, Chronic lymphatic leukemia, Prolonged neonatal jaund... ORPHA:51
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Severe intrauterine growth retardation, Pulmo... ORPHA:3404
Colchicine Poisoning
Leukocytosis, Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bulbous nose, Wide nasal bridge, Depressed nasal bridge, Asthma, Nasal flaring, Broad nasal tip, ... ORPHA:466943
Stüve-Wiedemann Syndrome
Apnea, Respiratory distress, Asthma, Short stature, Intrauterine growth retardation ORPHA:3206
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Neonatal death, Death in adolescence, Death in infancy, Death in childhood OMIM:619055
Gitelman Syndrome
Iron deficiency anemia, Respiratory distress, Delayed puberty, Failure to thrive, Neoplasm of the... ORPHA:358
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Coffin-Lowry Syndrome
Acrocyanosis, Decreased body weight, Cutis marmorata, Short stature, Anteverted nares, Wide nose OMIM:303600
Epidermolysis Bullosa, Lethal Acantholytic
Neonatal death OMIM:609638
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Growth delay, Postnatal growt... OMIM:180849
Doors Syndrome
Thrombocytosis, Bulbous nose, Respiratory distress, Sirenomelia, Wide nasal bridge, Aspiration pn... ORPHA:79500
Generalized Arterial Calcification Of Infancy
Respiratory distress, Failure to thrive in infancy, Hepatic calcification, Pancreatic calcificati... ORPHA:51608
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death OMIM:618810
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death OMIM:619167
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Respiratory distress, Branchial cyst, Infancy onset short-trun... ORPHA:508488
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death OMIM:263200
Plague
Respiratory distress, Acute infectious pneumonia, Hepatomegaly, Splenomegaly, Hemoptysis, Pharyng... ORPHA:707
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Umbilical hernia, Fragile skin, Br... ORPHA:287
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Choanal atresia, Wi... ORPHA:480880
Developmental And Epileptic Encephalopathy 89
Neonatal death, Death in childhood OMIM:619124
Atelosteogenesis, Type I
Neonatal death, Stillbirth OMIM:108720
Alström Syndrome
Abnormal liver physiology, Dorsocervical fat pad, Pulmonary arterial hypertension, Obesity, Cirrh... ORPHA:64
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea, Umbilical hernia ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis, Failure to thrive ORPHA:216694
Raine Syndrome
Neonatal death OMIM:259775
Greenberg Dysplasia
Neonatal death, Stillbirth OMIM:215140
Pmm2-Cdg
Elevated hepatic transaminase, Anteverted nares, Respiratory distress, Abnormal subcutaneous fat ... ORPHA:79318
Pallister-Hall Syndrome
Neonatal death OMIM:146510
Visceral Steatosis, Congenital
Neonatal death OMIM:228100
Short-Rib Thoracic Dysplasia 12
Neonatal death OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death OMIM:617925
Fontaine Progeroid Syndrome
Neonatal death, Death in infancy OMIM:612289
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Neonatal death OMIM:265380

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ola1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ola1.

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

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MGI Allele Allele Type Produced
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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