Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Forepaw

8 Images

MicroCT E18.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Diaphragmatic Hernia 5, X-Linked
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
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Crazy paving pattern, Death in infancy, ... OMIM:610921
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia, Respiratory distress, Death in infancy OMIM:254120
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Failure to thrive, Recurrent upper respirat... OMIM:263000
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Weight loss, Aspiration pneumonia, Respiratory distress ORPHA:141152
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Pleural Mesothelioma
Hepatomegaly, Respiratory distress, Pleural effusion, Dyspnea, Abnormal lung morphology, Weight l... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 1
Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, Failure to thrive, Neonatal d... OMIM:265120
Stuve-Wiedemann Syndrome 2
Stillbirth, Respiratory distress, Death in adolescence, Neonatal death, Thrombocytopenia, Intraut... OMIM:619751
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Severe short stature, Acrocyanosis OMIM:302000
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Central apnea, Respiratory distress, Pulmonary sequestration, Dyspnea, Ab... ORPHA:70589
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia... OMIM:610913
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Cyanosis, Methemoglobinemia OMIM:613977
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Tachypnea, Failure to thrive, Hypoxemia, Apnea, Pulmonary hypoplasia, Int... ORPHA:2257
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Short stature, Obesity, Recurrent respiratory infections OMIM:615993
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Cyanosis, Respiratory distress ORPHA:91130
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Respiratory distress, Pleural effusion, Growth delay, Splenomegaly, Cyanosis ORPHA:2414
Short Chain Acyl-Coa Dehydrogenase Deficiency
Intrauterine growth retardation, Failure to thrive, Hepatic steatosis, Respiratory distress ORPHA:26792
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Reticular pattern on pulmonary HR... ORPHA:2032
Cryptogenic Organizing Pneumonia
Pneumothorax, Respiratory distress, Dyspnea, Leukocytosis, Hypoxemia, Neutrophilia, Weight loss, ... ORPHA:1302
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Exertional dyspnea, ... ORPHA:2302
High Altitude Pulmonary Edema
Pulmonary edema, Dyspnea, Leukocytosis, Orthopnea, Hypoxemia, Tachypnea, Cyanosis ORPHA:330012
Gaucher Disease Type 2
Hepatomegaly, Respiratory distress, Splenomegaly, Abnormal pattern of respiration, Recurrent resp... ORPHA:77260
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Hypoxemia, Respiratory tract infection, Pneumonia, T... ORPHA:70587
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Respiratory distress, Pulmonary hypoplasia, Intrauterine growth ret... OMIM:616733
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Pleural effusion, Dyspnea, Bronchiectasis, Tachypnea, Hypoxemia,... ORPHA:79126
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Lymphocytic interstitial pneumonia, Severe short stature, Respiratory distress OMIM:245590
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Failure to thrive, Hypoxemia, Tachypnea, Cyanosis,... ORPHA:91359
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Failure to thrive, Thrombocytopenia, Intrauterine growt... OMIM:615597
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Dyspnea, Respiratory distress ORPHA:1832
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Respiratory distress, Subcutaneous hemorrhage, Hypox... ORPHA:238459
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Respiratory distress, Elevated circulating alanine aminotransferase con... OMIM:616974
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Immunoneurologic Disorder, X-Linked
Neonatal death, Small for gestational age OMIM:300076
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Grow... OMIM:613561
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
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
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Short stature, Decreased body weight, Respiratory distress OMIM:300580
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Hypoxemia, Failure to thr... ORPHA:264675
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea OMIM:267450
Laryngotracheal Angioma
Apnea, Cyanosis, Intercostal retractions, Respiratory distress ORPHA:137935
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea, Small for gestational age, Methemoglobinemia ORPHA:621
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Failure to thrive, Recurren... ORPHA:60032
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Respiratory distress, Aspiration pneumonia, Hypoxemia, Intrauterine gr... ORPHA:70588
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Pneumonia, Recurrent r... OMIM:610910
Stt3B-Cdg
Intrauterine growth retardation, Failure to thrive, Thrombocytopenia, Respiratory distress ORPHA:370924
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Acute pancreatitis, Dyspnea, Hy... ORPHA:178320
Interstitial Lung Disease 2
Cirrhosis, Exertional dyspnea, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proporti... OMIM:178500
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Respiratory distress, Pleural effusion, Dyspnea, Weight loss, Bronchiectasis ORPHA:411703
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Obesity-Hypoventilation Syndrome
Hypoventilation, Obesity, Cyanosis OMIM:257500
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertional dyspnea, Abnormal pulmonary vein... ORPHA:199241
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Hypoxemia, Dyspnea, Respiratory distress ORPHA:140896
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis, Respiratory distress OMIM:619793
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Malaria
Thrombocytopenia, Anemia, Respiratory distress ORPHA:673
Lethal Congenital Contracture Syndrome 8
Neonatal death, Death in infancy OMIM:616287
Avian Influenza
Pneumothorax, Elevated circulating hepatic transaminase concentration, Respiratory distress, Misc... ORPHA:454836
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Failure to thrive, Thrombocytopenia, Sp... ORPHA:79312
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Ichthyosis, Congenital, Autosomal Recessive 4B
Failure to thrive, Neonatal death, Death in infancy OMIM:242500
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Gaucher Disease, Perinatal Lethal
Purpura, Hepatomegaly, Anemia, Respiratory distress, Petechiae, Decreased body weight, Neonatal d... OMIM:608013
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Hypoxemia, Weight loss, C... ORPHA:747
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis, Methemoglobinemia ORPHA:464453
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Pulmonary Alveolar Microlithiasis
Pneumothorax, Pleural thickening, Hepatomegaly, Exertional dyspnea, Bronchitis, Dyspnea, Hypoxemi... ORPHA:60025
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss, Respiratory distress OMIM:612075
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cyanosis, Hypoxemia, Intrauterine growth retardation, Tachypnea, Anomalous pulmonar... ORPHA:555874
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory distress, Megaloblastic anemia, Short stature, Growth delay, Failure to thr... OMIM:250940
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Growth delay, Polycythemia, Cyanosis, Methemoglobinemia OMIM:250800
Congenital Myopathy 10A, Severe Variant
Failure to thrive, Respiratory distress OMIM:614399
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Failure to thrive, Respiratory distress ORPHA:261304
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Growth delay, Thrombocytopenia, Neutrop... ORPHA:289916
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Hypoxemia, Respiratory tract in... ORPHA:79127
Neuralgic Amyotrophy
Short stature, Acrocyanosis ORPHA:2901
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Congenital Heart Block
Intrauterine growth retardation, Cyanosis, Pleural effusion ORPHA:60041
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Neonatal death, Death in infancy OMIM:617184
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Anemia, Hepatomegaly, Petechiae, Decreased body weig... ORPHA:90051
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Recurrent pneumonia, Respiratory distress ORPHA:254875
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Apnea, Cyanosis, Hepat... OMIM:261680
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Intrauterine growth retardation, Failure to thrive in infancy, Cyanotic episode ORPHA:284417
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Neonatal death, Death in infancy OMIM:620265
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Elevated bronchoalveolar lavage fluid lymphocyte proportion, C... OMIM:610978
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Cyanosis, Failure to thrive, Hypoxemia, Tachypnea, Anomalous pulmonary venous retur... ORPHA:860
Pulmonary Arteriovenous Malformation
Liver abscess, Cyanosis, Iron deficiency anemia, Pleural empyema, Dyspnea, Hypoxemia, Pulmonary h... ORPHA:2038
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Abnormality of the liver, Hepatomegaly, Respiratory distress ORPHA:254864
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Cyanosis, Dyspnea ORPHA:2004
Succinic Acidemia
Respiratory distress OMIM:600335
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Respiratory distress OMIM:614741
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death OMIM:615228
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Fail... OMIM:608799
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Generalized abnormality of skin, Cirrhosis, Hepatomegaly, Elevated circ... ORPHA:367
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi... OMIM:612387
Tetrasomy 5P
Postnatal growth retardation, Respiratory distress, Failure to thrive, Pulmonary hypoplasia, Recu... ORPHA:3309
Bronchiolitis Obliterans
Pneumonia, Dyspnea, Hypoxemia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans ORPHA:1303
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
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Elevated circulating hepatic transaminase concentration, Death in infancy OMIM:615042
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Respiratory distress ORPHA:89844
Chitayat Syndrome
Short stature, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Resp... OMIM:617180
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Recurrent acute respiratory tract infection, Respiratory distress OMIM:620011
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Weight loss, Respiratory distress ORPHA:142
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Neonatal death, Death in infancy OMIM:614096
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory distres... OMIM:617156
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Respiratory distress, Microvesicular hepatic steatosis, Decreased carnitine level i... OMIM:212140
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Exertional dyspnea, Cyanosis ORPHA:98913
Tularemia
Anemia, Respiratory distress, Pleural effusion, Leukocytosis, Thrombocytopenia, Pneumonia ORPHA:3392
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... OMIM:618426
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Choanal Atresia
Recurrent respiratory infections, Cyanosis, Respiratory distress ORPHA:137914
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Respiratory distress, Hepatic periportal necrosis, Neonatal death, Pulmon... OMIM:231680
Holocarboxylase Synthetase Deficiency
Respiratory distress, Growth delay, Thrombocytopenia, Weight loss, Tachypnea ORPHA:79242
Odontochondrodysplasia 1
Mesomelic short stature, Respiratory distress, Death in infancy, Short stature, Pulmonary hypopla... OMIM:184260
Encephalopathy, Ethylmalonic
Petechiae, Failure to thrive, Acrocyanosis, Death in infancy OMIM:602473
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Respiratory dist... ORPHA:26793
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Respiratory distress, Microvesicular hepatic stea... OMIM:615595
Interstitial Lung And Liver Disease
Abnormal pulmonary interstitial morphology, Cirrhosis, Anemia, Hepatomegaly, Intraalveolar phosph... OMIM:615486
Double Outlet Right Ventricle
Pulmonary artery atresia, Short stature, Failure to thrive, Tachypnea, Cyanosis ORPHA:3426
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Congenital Tracheomalacia
Pneumothorax, Cyanosis, Emphysema, Intercostal retractions, Dyspnea, Bronchiectasis, Failure to t... ORPHA:95430
Q Fever
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Elevated circulating hepatic tr... ORPHA:781
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Atelectasis, Death in infancy OMIM:300219
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Farber Disease
Atelectasis, Anemia, Elevated circulating hepatic transaminase concentration, Respiratory distres... ORPHA:333
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice, Large for gestational age, Umbilical hernia ORPHA:226313
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death OMIM:601612
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Enterovirus Infection
Anemia, Respiratory distress, Abnormal macrophage morphology, Pleural effusion, Leukocytosis, Cho... ORPHA:292
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Increased mean corpuscular volume, Dyspnea, Portal hypertension, Throm... OMIM:620367
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Necrotizing Enterocolitis
Leukocytosis, Apnea, Thrombocytopenia, Peritonitis, Cyanosis, Small for gestational age, Neutropenia ORPHA:391673
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Respiratory distress, Growth delay, Recurrent pneumonia, Thrombocytopenia, Leukopenia... OMIM:616271
Laryngomalacia
Respiratory distress OMIM:150280
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress ORPHA:99825
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Respiratory distress ORPHA:100057
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Respiratory distress, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Failure to th... OMIM:612852
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Anemia, Death in childhood, Exertional dyspnea, Respirato... OMIM:220110
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Respiratory distress, Microv... OMIM:256810
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Fail... ORPHA:329178
Odontochondrodysplasia
Short stature, Respiratory distress, Death in infancy ORPHA:166272
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Hepatomegaly, Death in infancy OMIM:614299
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Death in childhood, Respiratory distress,... OMIM:617303
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Weight loss, Acrocyanosis ORPHA:3165
Arthrogryposis Multiplex Congenita 6
Death in childhood, Neonatal death, Death in infancy OMIM:619334
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Hepatomegaly, Respiratory distress ORPHA:927
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Tarp Syndrome
Cyanosis, Failure to thrive, Apnea, Pulmonary hypoplasia, Intrauterine growth retardation, Extram... ORPHA:2886
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Diaphanospondylodysostosis
Abnormal liver lobulation, Respiratory distress, Pulmonary hypoplasia, Disproportionate short-tru... OMIM:608022
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Congenital Laryngeal Web
Short stature, Respiratory distress ORPHA:2374
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Growth delay, Failure to thrive, Acrocyanosis OMIM:614407
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Failure to thrive, Recurrent pneumonia, Tachypnea, Cyanosis ORPHA:1329
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Respiratory distress, Failure to thrive, Thrombocytopenia, Leukopenia... OMIM:251000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating alanine aminotransferase concentration, Elevated circu... OMIM:620375
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Angioedema, Cutis marmo... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 21
Neonatal death OMIM:615918
Congenital Myasthenic Syndrome
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Recurr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Sudden episodic apnea, Apneic episodes precipitated by illness, fatigue, stress, Recurr... ORPHA:98914
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis, Short stature, Growth delay ORPHA:1867
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Respiratory distress, Hepatomegaly, Death in infancy OMIM:604377
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Toxic Epidermal Necrolysis
Anemia, Elevated circulating hepatic transaminase concentration, Pancreatitis, Respiratory distre... ORPHA:537
Ethylmalonic Encephalopathy
Petechiae, Failure to thrive, Acrocyanosis ORPHA:51188
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Cyanosis, Dyspnea, Tachypnea, Failure to thrive, Recurrent respiratory infect... ORPHA:99106
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Dysp... ORPHA:348
Esophageal Atresia
Cyanosis, Respiratory distress, Bronchitis, Growth delay, Pulmonary hypoplasia, Failure to thrive... ORPHA:1199
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Recurrent respiratory infections, Respiratory distress OMIM:606763
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sudden episodic apnea, Cya... ORPHA:159
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Anomalous ori... ORPHA:99050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Congenital Fibrinogen Deficiency
Splenic rupture, Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis ORPHA:335
Chiari Malformation Type Ii
Cervical myelopathy, Cyanosis, Myelomeningocele, Spina bifida OMIM:207950
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Recurrent respirato... OMIM:211530
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Stillbirth, Rhizomelia, Respiratory distress, Pulmonary hypopl... OMIM:151210
Isolated Atp Synthase Deficiency
Short stature, Hepatomegaly, Respiratory distress ORPHA:254913
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Asplenia OMIM:612776
Larsen-Like Syndrome, Lethal Type
Neonatal death OMIM:245650
Aicardi-Goutieres Syndrome 1
Purpura, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Short ... OMIM:225750
Meckel Syndrome 14
Pneumothorax, Occipital encephalocele, Pulmonary hypoplasia, Hepatic fibrosis, Cyanosis OMIM:619879
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Hepatomegaly, Respiratory distress OMIM:619383
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Respiratory distress, Failure to thrive, Recurrent pneumonia, Recurrent upper respira... OMIM:607143
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Respiratory distress, Failure to thrive, Thrombocytopenia, Ne... OMIM:251110
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death OMIM:602199
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Respiratory distress, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, M... OMIM:274150
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Respiratory distress, Neonatal death, Severe short stature, Disproportionate short st... OMIM:616482
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Hepatomegaly, Growth delay, Urticaria, Peritonitis, Acrocyanosis, Erythema ORPHA:343
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Absence Of The Pulmonary Artery
Pulmonary edema, Dyspnea, Growth delay, Orthopnea, Recurrent pneumonia, Pulmonary hypoplasia, Bro... ORPHA:980
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia ORPHA:314655
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy OMIM:613730
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Dyspnea ORPHA:439
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Anemia, Pancytopenia, Respiratory distress, Failure to thrive, Thrombocytopenia, Ne... OMIM:251100
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Short stature, Granulocytopenia, Macrocytic anemia, Respiratory distress OMIM:606164
Goodpasture Syndrome
Exertional dyspnea, Reticular pattern on pulmonary HRCT, Anemia, Cyanosis, Hemosiderin-laden macr... OMIM:233450
Mitochondrial Complex I Deficiency, Nuclear Type 37
Growth delay, Failure to thrive, Respiratory distress OMIM:619272
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Failure to thrive, Dyspnea, Respiratory distress ORPHA:2707
Mogs-Cdg
Hypoventilation, Pulmonary edema, Hepatomegaly, Respiratory distress, Apnea, Thrombocytopenia, He... ORPHA:79330
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis ORPHA:896
Lymphatic Malformation 7
Pulmonary edema, Anemia, Respiratory distress, Chylothorax, Pleural effusion OMIM:617300
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cyanosis ORPHA:3304
Bacterial Toxic-Shock Syndrome
Respiratory distress, Increased circulating myelocyte count, Hepatitis, Thrombocytopenia, Respira... ORPHA:36234
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Acrocyanosis, Urticaria, Cutis marmorata, Weight loss, Abnormal pleura morphology, Recur... ORPHA:183
Fanconi Anemia, Complementation Group O
Miscarriage, Neonatal death, Death in infancy OMIM:613390
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Tachypnea, Respiratory distress OMIM:237310
Fucosidosis
Abnormality of the gallbladder, Hepatomegaly, Vascular skin abnormality, Failure to thrive, Acroc... ORPHA:349
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory distress OMIM:617895
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Death in infancy, Growth delay, Failure to thrive, Apnea, Splenomegaly, Cyanosis, H... OMIM:252010
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Pulmonary artery hypoplasia, Growth delay, Short stature, Cyanosis ORPHA:2326
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death OMIM:619817
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Respiratory distress OMIM:202650
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Exertional dyspnea, Miscarriage, Nasal mucosa tel... OMIM:187300
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Hepatomegaly, Biliary atresia, Respiratory distress, Total anomalous pu... OMIM:306955
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature, Respiratory distress OMIM:617102
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Purpura, Anemia, Respiratory distress, Petechiae, Reticulocytosis, Leukopenia... ORPHA:2330
Dravet Syndrome
Cyanotic episode ORPHA:33069
Craniofaciofrontodigital Syndrome
Large for gestational age, Premature skin wrinkling, Respiratory distress, Dyspnea, Short stature... ORPHA:363705
Ethylene Glycol Poisoning
Pulmonary edema, Cyanosis, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress ORPHA:31826
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Pulmonary artery atresia, Hypoplasia of the thymus, Pulm... ORPHA:3384
Alfadhel Syndrome
Short stature, Nasal flaring OMIM:620655
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Short stature, Growth delay, Fa... ORPHA:209905
Poems Syndrome
Hepatomegaly, Pleural effusion, Polycythemia, Splenomegaly, Weight loss, Acrocyanosis, Plethora, ... ORPHA:2905
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Acrocyanosis, Hepatic failure ORPHA:49566
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Respiratory distress, Elevated circulating alanine aminotransferase concentration, ... ORPHA:308552
Myotonic Dystrophy 1
Cholelithiasis, Respiratory distress OMIM:160900
Mercury Poisoning
Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Dyspnea, Respiratory distress OMIM:115197
Lujo Hemorrhagic Fever
Purpura, Atelectasis, Elevated circulating hepatic transaminase concentration, Respiratory distre... ORPHA:319213
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Atrial Septal Defect, Coronary Sinus Type
Exertional dyspnea, Cyanosis, Dyspnea, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Respiratory distress, Pleural effusion, Apnea, Cyanosis OMIM:261740
Myasthenia Gravis
Dyspnea, Pure red cell aplasia, Acrocyanosis, Hepatitis, Hemolytic anemia ORPHA:589
Double Outlet Left Ventricle
Pulmonary artery stenosis, Failure to thrive, Tachypnea, Cyanosis ORPHA:3427
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Respiratory distress ORPHA:98805
Rodrigues Blindness
Short stature, Ectodermal dysplasia, Nasal flaring OMIM:268320
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death OMIM:618232
Afibrinogenemia, Congenital
Death in childhood, Death in adolescence, Neonatal death, Death in infancy OMIM:202400
Cardiogenic Shock
Hepatomegaly, Dyspnea, Orthopnea, Hypoxemia, Cyanosis ORPHA:97292
Congenital Tracheal Stenosis
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Respirato... ORPHA:141127
Histiocytoid Cardiomyopathy
Pulmonary edema, Hepatomegaly, Failure to thrive, Tachypnea, Cyanosis ORPHA:137675
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cryptococcosis
Pneumonia, Cirrhosis, Lymphoid leukemia, Respiratory distress, Pleural effusion, Dyspnea, Periton... ORPHA:1546
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Severe short stature ORPHA:3015
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Chromosome 6Q24-Q25 Deletion Syndrome
Intrauterine growth retardation, Respiratory distress, Growth delay OMIM:612863
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Respiratory distress, Reticulocytopenia, Short stature, Growth delay, ... OMIM:613309
Oromandibular Dystonia
Weight loss, Respiratory distress ORPHA:93958
Achondroplasia
Neonatal short-limb short stature, Rhizomelia, Respiratory distress, Death in infancy, Pulmonary ... OMIM:100800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Cirrhosis, Hepatic arteriovenous malformation,... OMIM:600376
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, C... OMIM:616749
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Cyanosis ORPHA:488627
Boomerang Dysplasia
Neonatal death OMIM:112310
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ... ORPHA:185
Kniest Dysplasia
Disproportionate short-trunk short stature, Respiratory distress, Rhizomelia, Umbilical hernia OMIM:156550
Meier-Gorlin Syndrome 1
Emphysema, Respiratory distress, Death in infancy, Failure to thrive, Intrauterine growth retarda... OMIM:224690
Fetal Gaucher Disease
Stillbirth, Neonatal death, Death in infancy ORPHA:85212
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Respiratory distress, Megaloblastic anemia, Growth delay, Failure to thrive, Thrombocyt... ORPHA:79282
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Hepatomegaly, Cholelithiasis, Respiratory distress, B lymphocytopen... ORPHA:83617
Moebius Syndrome
Respiratory distress OMIM:157900
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Anemia, Elevated circulating hepatic transaminase concentration, Respiratory dis... ORPHA:340
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Apnea, Thrombocytopenia, Cyanosis OMIM:620423
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Grow... ORPHA:17
Mitochondrial Phosphate Carrier Deficiency
Cyanosis OMIM:610773
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Dyspnea, Orthopnea, Pneumonia, Cyanosis ORPHA:99103
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di... ORPHA:98915
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Pulmonary hypoplasia, Respiratory distress OMIM:620306
Nocardiosis
Pneumothorax, Liver abscess, Emphysema, Pleuritis, Respiratory distress, Pleural effusion, Dyspne... ORPHA:31204
Lymphatic Malformation 12
Neonatal death, Death in adolescence OMIM:620014
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Respiratory distress, Pancreatic hypoplasia, Pancreatic aplasia, Pulmonary arter... ORPHA:2255
Osteogenesis Imperfecta, Type X
Death in childhood, Rhizomelia, Respiratory distress, Short stature, Recurrent pneumonia OMIM:613848
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory distress, Death in childhood, Death in infancy OMIM:620278
Microlissencephaly-Micromelia Syndrome
Failure to thrive, Respiratory distress ORPHA:50810
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Familial Dysautonomia
Abnormal peritoneum morphology, Growth delay, Abnormal pleura morphology, Acrocyanosis, Recurrent... ORPHA:1764
Infantile Krabbe Disease
Cachexia, Failure to thrive, Respiratory distress ORPHA:206436
Listeriosis
Jaundice, Liver abscess, Respiratory distress, Splenic abscess, Miscarriage, Peritonitis, Pneumon... ORPHA:533
Lethal Congenital Contracture Syndrome 1
Neonatal death OMIM:253310
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Neuroblastoma
Thrombocytopenia, Anemia, Weight loss, Respiratory distress ORPHA:635
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Exertional dyspnea, Respiratory distress, Elevated circulating alanine... ORPHA:365
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short stature, Obesity, Intrauterine growth retardation, Recurrent respirat... ORPHA:177907
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Delayed puberty, Hypoventilation, Elevated circulating hepatic transaminase concentration, Recurr... ORPHA:293987
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return OMIM:617478
Mgat2-Cdg
Failure to thrive, Recurrent upper and lower respiratory tract infections, Impaired lymphocyte tr... ORPHA:79329
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Abnormality of the pancreas, Umbilical hernia ORPHA:1555
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Hepatomegaly, Pleural effusion, Respiratory distress OMIM:620369
Japanese Encephalitis
Pulmonary edema, Respiratory distress, Irregular respiration, Neutrophilia, Abnormal pattern of r... ORPHA:79139
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Abcd Syndrome
Neonatal death OMIM:600501
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Recurrent respiratory infections, Respiratory distress OMIM:300968
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Atelectasis, Respiratory distress, Repeated pneumothoraces, Pulmona... ORPHA:536467
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Dyspnea, Pulmonary artery stenosis, Telangiect... ORPHA:3342
Eisenmenger Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Exertional dyspnea, Respirat... ORPHA:97214
Ramos-Arroyo Syndrome
Decreased body weight, Severe failure to thrive, Severe short stature, Respiratory distress ORPHA:1051
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Anemia, Respiratory distress, Dyspnea, Fragile skin, Growth delay, Failure to thriv... ORPHA:79404
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Congenital Disorder Of Deglycosylation 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Decr... OMIM:615273
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Respiratory distress, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Recurrent respira... ORPHA:505248
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Hepatomegaly, Exertional dyspnea, Cardi... ORPHA:99125
Aortic Arch Interruption
Exertional dyspnea, Respiratory distress, Aortopulmonary window, Tachypnea, Cyanosis ORPHA:2299
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Growth delay, Failure to thrive, Severe short stature, Intrauterin... ORPHA:2554
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy OMIM:618835
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Hyperventilation ORPHA:79241
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy OMIM:618839
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Pitt-Hopkins Syndrome
Postnatal growth retardation, Growth delay, Failure to thrive, Acrocyanosis, Abnormal pattern of ... ORPHA:2896
Mandibulofacial Dysostosis, Guion-Almeida Type
Short stature, Respiratory distress OMIM:610536
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Dyspnea, Conjunctival tel... OMIM:610655
Coccidioidomycosis
Pancreatitis, Respiratory distress, Pleural empyema, Abnormality of the liver, Abnormality of the... ORPHA:228123
Hereditary Angioedema Type 1
Urticaria, Dyspnea, Dermatographic urticaria, Respiratory distress ORPHA:100050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Growth delay, Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Alternating Hemiplegia Of Childhood
Failure to thrive, Apnea, Flushing, Respiratory distress ORPHA:2131
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Cyanosis OMIM:617239
Mitochondrial Dna-Associated Leigh Syndrome
Hyperventilation, Hepatomegaly, Dyspnea, Failure to thrive, Apnea, Episodic respiratory distress,... ORPHA:255210
Spondyloepiphyseal Dysplasia Congenita
Neonatal short-trunk short stature, Cervical myelopathy, Respiratory distress OMIM:183900
Dermatomyositis
Abnormal pulmonary interstitial morphology, Facial erythema, Elevated circulating hepatic transam... ORPHA:221
Hyperparathyroidism, Transient Neonatal
Umbilical hernia, Respiratory distress, Splenic cyst OMIM:618188
Cocaine Intoxication
Pneumothorax, Pulmonary edema, Respiratory distress, Diffuse alveolar hemorrhage, Tachypnea, Hype... ORPHA:90068
Adnp Syndrome
Respiratory distress, Short stature, Umbilical hernia, Truncal obesity, Recurrent upper respirato... ORPHA:404448
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Respiratory distress, Annular pancreas, Asplenia ORPHA:210122
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Hepatic hemangioma, Spina bifida occulta, Accessory spleen, Respira... OMIM:180849
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Postinfectious Vasculitis
Palpable purpura, Viral hepatitis, Vasculitis in the skin, Recurrent streptococcus pneumoniae inf... ORPHA:48435
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Campomelic Dysplasia
Neonatal short-limb short stature, Recurrent lower respiratory tract infections, Disproportionate... OMIM:114290
Leptospirosis
Jaundice, Hepatomegaly, Respiratory distress, Pleural effusion, Thrombocytopenia, Elevated serum ... ORPHA:509
Schinzel-Giedion Syndrome
Annular pancreas, Neural tube defect, Respiratory distress, Recurrent pneumonia, Pulmonary hypopl... ORPHA:798
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress OMIM:217980
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress ORPHA:2519
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Criss-Cross Heart
Cyanosis ORPHA:1461
Osteoglophonic Dysplasia
Rhizomelia, Respiratory distress, Growth delay, Failure to thrive, Severe short stature OMIM:166250
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Spina bifida occulta, Small for gestational age, Respiratory distress, Br... ORPHA:508488
Oculopharyngodistal Myopathy 1
Hypercapnia, Weight loss, Respiratory distress OMIM:164310
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Sacral Agenesis With Vertebral Anomalies
Neonatal death OMIM:615709
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory distress, Respiratory tract infection, Hepatic cysts... ORPHA:805
Arboleda-Tham Syndrome
Respiratory distress, Growth delay, Recurrent aspiration pneumonia, Intrauterine growth retardati... OMIM:616268
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Severe failure to thrive, Exertional dyspnea, Premature skin wri... ORPHA:740
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Pfeiffer Syndrome Type 3
Respiratory distress ORPHA:93260
Neuromuscular Oculoauditory Syndrome
Respiratory distress OMIM:618733
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Growth delay, Failure to thrive, Severe short stature, Erythema ORPHA:2556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death OMIM:619362
Mednik Syndrome
Death in childhood, Neonatal death, Death in infancy OMIM:609313
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Respiratory distress, Fragile skin, Recurrent respira... OMIM:614748
Colchicine Poisoning
Leukocytosis, Respiratory distress ORPHA:31824
Primary Hyperoxaluria
Failure to thrive, Cutis marmorata, Elevated circulating hepatic transaminase concentration, Acro... ORPHA:416
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... ORPHA:51
Gitelman Syndrome
Delayed puberty, Neoplasm of the pancreas, Iron deficiency anemia, Respiratory distress, Failure ... ORPHA:358
Stüve-Wiedemann Syndrome
Intrauterine growth retardation, Apnea, Short stature, Respiratory distress ORPHA:3206
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Respiratory distress OMIM:305100
Ulbright-Hodes Syndrome
Pneumothorax, Postnatal growth retardation, Respiratory distress, Severe intrauterine growth reta... ORPHA:3404
Cardiac Valvular Dysplasia 1
Cyanosis, Pulmonary artery atresia OMIM:212093
Generalized Arterial Calcification Of Infancy
Hepatic calcification, Respiratory distress, Pancreatic calcification, Failure to thrive in infan... ORPHA:51608
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Generalized abnormality of skin, Elevated circulating hepatic transaminase concentration, Anemia,... ORPHA:95455
Cleidocranial Dysplasia 1
Short stature, Respiratory distress, Moderately short stature OMIM:119600
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Hepatomegaly, Splenomegaly, Respiratory distress OMIM:617088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Growth delay, Short stature, Failure to thrive, Recurrent pneumonia, Acute ... ORPHA:99646
Doors Syndrome
Sirenomelia, Spina bifida occulta, Respiratory distress, Aspiration pneumonia, Thrombocytosis ORPHA:79500
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity, Nasal flaring ORPHA:466943
Congenitally Corrected Transposition Of The Great Arteries
Failure to thrive, Cyanosis, Pulmonary artery atresia ORPHA:216694
Plague
Acute infectious pneumonia, Hepatomegaly, Splenomegaly, Respiratory distress ORPHA:707
Isolated Arrhinia
Respiratory distress ORPHA:1134
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Fragile skin, Umbilical hernia, Ecchymosis, Acrocyanosis, Bruising s... ORPHA:287
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Delayed puberty, Respiratory distress, Cyst of the ductus choledochus, Short stature, Recurrent u... ORPHA:480880
Coffin-Lowry Syndrome
Short stature, Cutis marmorata, Decreased body weight, Acrocyanosis OMIM:303600
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Recurrent sinusitis, Splenomegaly, Hepat... ORPHA:64
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea, Bruising susceptibility, Umbilical hernia ORPHA:285
Pmm2-Cdg
Abnormal subcutaneous fat tissue distribution, Abnormal liver parenchyma morphology, Elevated cir... ORPHA:79318

Histopathology

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

There is no histopathology data for Ola1

IMPC related publications

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

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

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

Subscribe to newsletter