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Gene: Scnn1a MGI:101782

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

sodium channel, nonvoltage-gated 1 alpha

Synonyms:

ENaC alpha, Scnn1, mENaC

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Scnn1a 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.

Human diseases associated with Scnn1a (7 diseases)
Human diseases predicted to be associated with Scnn1a (378 diseases)

The table below shows human diseases associated to Scnn1a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Idiopathic Bronchiectasis	Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Productive cough, Emphyse...	ORPHA:60033
Generalized Pseudohypoaldosteronism Type 1	Cough, Wheezing	ORPHA:171876
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis	OMIM:613021
Pseudohypoaldosteronism, Type I, Autosomal Recessive		OMIM:264350
Liddle Syndrome 3		OMIM:618126
Brugada Syndrome		ORPHA:130
Liddle Syndrome		ORPHA:526

The table below shows human diseases predicted to be associated to Scnn1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholesterol Pneumonia	Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia	OMIM:215030
Apnea, Central Sleep	Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration	OMIM:207720
Cyanosis And Hepatic Disease	Dyspnea, Cyanosis	OMIM:219400
Laryngotracheal Angioma	Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor	ORPHA:137935
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre...	ORPHA:2004
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Phosphoserine Aminotransferase Deficiency	Apnea, Death in infancy, Cyanotic episode	OMIM:610992
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Congenital Contracture Syndrome 3	Respiratory insufficiency, Neonatal death	OMIM:611369
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Tracheopathia Osteoplastica	Dyspnea, Wheezing, Recurrent pneumonia, Cough	OMIM:189961
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c...	ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure	OMIM:263000
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Neonatal death, Dysphagia, Pulmonary arterial hyperte...	OMIM:619751
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Perching Syndrome	Dysphagia, Respiratory distress	OMIM:617055
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis, Stridor	OMIM:150260
Cryptogenic Organizing Pneumonia	Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res...	ORPHA:1302
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction	ORPHA:141152
Recurrent Respiratory Papillomatosis	Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Tachypnea, ...	ORPHA:60032
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Bronchopulmonary Dysplasia	Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ...	ORPHA:70589
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Severe Acute Respiratory Syndrome	Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi...	ORPHA:140896
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Cyanosis, Central apnea, Choreoathetosis, Lethargy	ORPHA:71277
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp...	OMIM:265120
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Bradykinesia, Falls	ORPHA:240085
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Pleural Mesothelioma	Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,...	ORPHA:50251
Choanal Atresia	Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis...	ORPHA:137914
Succinic Acidemia	Respiratory distress	OMIM:600335
Immunodeficiency 95	Respiratory distress, Recurrent viral pneumonia, Respiratory failure	OMIM:619773
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis	ORPHA:2901
Gaucher Disease Type 2	Dysphagia, Abnormal pattern of respiration, Respiratory distress, Cough	ORPHA:77260
Cleft Larynx, Posterior	Cyanosis, Aspiration	OMIM:215800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir...	ORPHA:264675
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea	OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp...	OMIM:610921
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr...	ORPHA:1303
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary...	ORPHA:2414
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Asbestos Intoxication	Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f...	ORPHA:2302
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Cyanosis, Transient Neonatal	Cyanosis, Jaundice	OMIM:613977
Breath-Holding Spells	Cyanosis	OMIM:607578
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In...	OMIM:610913
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Infant Acute Respiratory Distress Syndrome	Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring	ORPHA:70587
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency, Difficulty walking, Recurrent pneumonia, Dysphag...	ORPHA:254875
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Dysphagia, Respi...	OMIM:614399
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy	OMIM:604377
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Malaria	Gait imbalance, Respiratory distress	ORPHA:673
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea...	ORPHA:36238
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction	ORPHA:100057
Thyroid Lymphoma	Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor	ORPHA:97285
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis, Athetosis	ORPHA:621
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Laryngeal Web, Familial	Respiratory distress, Stridor	OMIM:150360
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait	ORPHA:2596
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis	OMIM:619466
Congenital Myasthenic Syndrome	Ataxia, Episodic respiratory distress, Respiratory arrest, Tip-toe gait, Central sleep apnea, Cya...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ataxia, Episodic respiratory distress, Respiratory arrest, Tip-toe gait, Central sleep apnea, Cya...	ORPHA:98914
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Oxygen desaturation on exertion, Ataxia, Respiratory distress, Asthma, Crackles...	OMIM:610978
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy	OMIM:237310
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Lethargy	ORPHA:26792
Primary Pulmonary Hypoplasia	Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ...	ORPHA:2257
Familial Nasal Acilia	Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea	ORPHA:922
Progressive Supranuclear Palsy-Corticobasal Syndrome	Dysphagia, Bradykinesia, Respiratory distress	ORPHA:240103
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus...	ORPHA:411703
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Postsynaptic Congenital Myasthenic Syndromes	Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ...	ORPHA:98913
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea	ORPHA:747
Acute Interstitial Pneumonia	Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta...	ORPHA:79126
Chiari Malformation Type Ii	Dysphagia, Ataxia, Cyanosis, Inspiratory stridor	OMIM:207950
Anaplastic Thyroid Carcinoma	Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Stridor	ORPHA:142
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Acute Lung Injury	Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure	ORPHA:178320
Folinic Acid-Responsive Seizures	Broad-based gait, Apnea, Ataxia, Respiratory distress, Difficulty walking	ORPHA:79097
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Ataxia, Respiratory insufficiency, Dysphagia, Dyspnea, Nocturnal hypoventil...	OMIM:211530
Mitochondrial Phosphate Carrier Deficiency	Respiratory insufficiency, Cyanosis	OMIM:610773
Meconium Aspiration Syndrome	Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,...	ORPHA:70588
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Cough, Difficulty walking, Waddling gait, Dyspnea	ORPHA:86812
Slc35A1-Cdg	Hypoxemia, Respiratory distress, Subcutaneous hemorrhage, Pneumonia	ORPHA:238459
Primary Dystonia, Dyt4 Type	Dysphagia, Dysdiadochokinesis, Respiratory distress, Gait disturbance	ORPHA:98805
Benign Familial Neonatal Epilepsy	Apnea, Circumoral cyanosis	ORPHA:1949
X-Linked Centronuclear Myopathy	Respiratory distress, Inability to walk, Pneumonia, Respiratory failure requiring assisted ventil...	ORPHA:596
Multiple Carboxylase Deficiency	Respiratory distress, Ataxia, Lethargy, Tachypnea	ORPHA:148
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Nonproductive cough, Decre...	ORPHA:79127
Avian Influenza	Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv...	ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring...	ORPHA:254864
Encephalopathy, Ethylmalonic	Ataxia, Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Pulmonary Capillary Hemangiomatosis	Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox...	ORPHA:199241
Spinocerebellar Ataxia, X-Linked 3	Episodic respiratory distress, Dysmetria, Episodic hypoventilation, Death in infancy, Dysphagia, ...	OMIM:301790
Idiopathic Bronchiectasis	Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Productive cough, Emphyse...	ORPHA:60033
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia	OMIM:612075
Arthrogryposis Multiplex Congenita 6	Akinesia, Death in childhood, Neonatal death, Death in infancy, Respiratory failure	OMIM:619334
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Congenital Tracheomalacia	Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona...	ORPHA:95430
Evans Syndrome	Petechiae, Bruising susceptibility, Epistaxis, Dyspnea, Jaundice, Lethargy	ORPHA:1959
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure	ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Ataxia	OMIM:618426
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Lethargy, Tachypnea	ORPHA:79242
Buerger Disease	Acrocyanosis	ORPHA:36258
Tricuspid Atresia	Cyanosis	ORPHA:1209
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Choreoathetosis, Lethargy	ORPHA:289916
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Complete Atrioventricular Septal Defect	Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,...	ORPHA:1329
Pulmonary Arteriovenous Malformation	Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter...	ORPHA:2038
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Arnold-Chiari Malformation Type Ii	Apnea, Ataxia, Cyanosis, Difficulty walking, Pneumonia, Inspiratory stridor, Dysphagia	ORPHA:1136
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia	OMIM:606763
Hsd10 Disease, Infantile Type	Dysphagia, Loss of ambulation, Choreoathetosis, Cyanosis	ORPHA:391428
Triosephosphate Isomerase Deficiency	Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Unsteady...	OMIM:615512
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Choreoathetosis, Lethargy	ORPHA:79312
Episodic Ataxia Type 1	Respiratory distress, Choreoathetosis, Tip-toe gait	ORPHA:37612
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Motor Neuropathy, Peripheral, With Dysautonomia	Cyanosis	OMIM:252320
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Ethylmalonic Encephalopathy	Ataxia, Petechiae, Acrocyanosis	ORPHA:51188
Intestinal Botulism	Dysphagia, Dyspnea, Death in infancy, Respiratory insufficiency due to muscle weakness	ORPHA:178481
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Cyanosis, Sudden episodic apnea, Lethargy	ORPHA:159
Pneumocystosis	Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo...	ORPHA:723
Congenital Disorder Of Glycosylation, Type Ie	Telangiectasia, Ataxia, Respiratory distress	OMIM:608799
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Gait imbalance, Cyanosis, Gait disturbance, Difficulty walking, Dysphagia	ORPHA:488627
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Ataxia, Inability to walk, Cyanosis, Choreoathetosis, Gait ataxia	OMIM:619580
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Respiratory distress	ORPHA:89844
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp...	ORPHA:60025
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Sleep apnea, Respiratory insufficiency, Waddling gait, Neonatal respiratory...	ORPHA:98915
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Moebius Syndrome	Dysphagia, Dysdiadochokinesis, Respiratory distress, Gait disturbance	OMIM:157900
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death, Death in infancy	OMIM:300219
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Death in childhood, Truncal ataxia, Exertional dyspnea, Respiratory...	OMIM:220110
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Sepsis In Premature Infants	Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp...	ORPHA:90051
Hereditary Angioedema Type 1	Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dysphagia, Dyspnea	ORPHA:100050
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Lethargy	ORPHA:927
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Dravet Syndrome	Bradykinesia, Progressive gait ataxia, Cyanotic episode	ORPHA:33069
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Petechiae, Neonatal death, Purpura, Dysphagia	OMIM:608013
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Myotonic Dystrophy 1	Dysphagia, Respiratory distress	OMIM:160900
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Brain-Lung-Thyroid Syndrome	Respiratory distress, Asthma, Ataxia, Falls, Abnormal eating behavior, Choreoathetosis, Recurrent...	ORPHA:209905
Congenital Tricuspid Valve Dysplasia	Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Tetanus	Dysphagia, Respiratory distress, Tachypnea	ORPHA:3299
Eosinophilic Granulomatosis With Polyangiitis	Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Gait disturbance...	ORPHA:183
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Difficulty walking, Res...	OMIM:164310
Oromandibular Dystonia	Dysphagia, Respiratory distress	ORPHA:93958
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Criss-Cross Heart	Respiratory insufficiency, Cyanosis	ORPHA:1461
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Tetrasomy 5P	Respiratory distress, Cyanosis, Pulmonary arterial hypertension	ORPHA:3309
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Urticaria, Erythema, Purpura, Acrocyanosis	ORPHA:343
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Truncal ataxia	OMIM:614407
Nasolacrimal Duct Cyst	Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea...	ORPHA:141083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia, Jaundice, Lethargy	ORPHA:26793
Atrial Septal Defect, Ostium Secundum Type	Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ...	ORPHA:99103
Congenital Fibrinogen Deficiency	Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage	ORPHA:335
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Atrial Septal Defect, Ostium Primum Type	Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio...	ORPHA:99106
Esophageal Atresia	Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni...	ORPHA:1199
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Exertional dyspnea, Respiratory insufficiency	OMIM:614370
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper...	ORPHA:348
Leigh Syndrome With Cardiomyopathy	Respiratory distress, Apnea, Ataxia, Central hypoventilation, Dysphagia, Respiratory failure	ORPHA:70474
Pulmonary Hypertension, Primary, 3	Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary...	OMIM:615343
Ethylene Glycol Poisoning	Ataxia, Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration	ORPHA:31826
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm...	ORPHA:99104
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Lethargy	OMIM:251000
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Inability to walk, Gait ataxia	OMIM:619383
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Myasthenia Gravis	Dysphagia, Dyspnea, Acrocyanosis	ORPHA:589
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation	ORPHA:314655
Waardenburg Syndrome Type 3	Acrocyanosis, Tracheomalacia	ORPHA:896
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin	ORPHA:367
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Ataxia, Flushing, Choreoathetosis, Aspiration, Dysphagia, Oral-phary...	ORPHA:2131
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Ataxia, Cyanosis, Respiratory insufficiency, Death in infancy, Respiratory failure, Lethargy	OMIM:252010
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Craniofaciofrontodigital Syndrome	Respiratory distress, Palmoplantar cutis laxa, Prominent superficial veins, Premature skin wrinkl...	ORPHA:363705
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Aicardi-Goutieres Syndrome 1	Inability to walk, Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Kniest Dysplasia	Gait disturbance, Respiratory distress, Tracheomalacia	OMIM:156550
Biotinidase Deficiency	Respiratory distress, Apnea, Ataxia, Hyperventilation, Lethargy	ORPHA:79241
Atrioventricular Septal Defect 3	Cyanosis, Pulmonary arterial hypertension	OMIM:600309
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Death in childhood, Inability to walk, Recurrent pneumonia	OMIM:617303
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy	OMIM:251110
Telangiectasia, Hereditary Hemorrhagic, Type 1	Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Exer...	OMIM:187300
Absence Of The Pulmonary Artery	Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary...	ORPHA:980
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea	ORPHA:141127
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Sleep apnea, Inability to walk, Respiratory insufficiency, Orthopnea, Diffi...	ORPHA:365
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy	OMIM:251100
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Radio-Renal Syndrome	Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure	ORPHA:3015
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Choreoathetosis, Recurrent pneumonia	OMIM:616271
Meckel Syndrome 14	Cardiorespiratory arrest, Cyanosis, Pneumothorax	OMIM:619879
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis	ORPHA:49566
Toxic Epidermal Necrolysis	Respiratory distress, Polydipsia, Erythema, Cough, Restrictive ventilatory defect, Dysphagia	ORPHA:537
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Tracheomalacia	OMIM:608022
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Crackles, Purpura, Ecchymosis, Dysphagia, Rhinitis	ORPHA:319213
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Respiratory distress	ORPHA:438216
Unilateral Polymicrogyria	Epistaxis, Apnea, Cyanosis, Pseudobulbar paralysis	ORPHA:268943
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Unsteady gait	OMIM:618733
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Waddling gait, Restrictive ventilatory defect	OMIM:183900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Asthma, Polydipsia, Central hypoventilation, Cyanosis, Polyphagia, Cardiorespiratory arrest, Hypo...	ORPHA:293987
Histiocytoid Cardiomyopathy	Cyanosis, Cough, Lethargy, Tachypnea	ORPHA:137675
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Tarp Syndrome	Broad-based gait, Apnea, Cyanosis	ORPHA:2886
Telangiectasia, Hereditary Hemorrhagic, Type 4	Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp...	OMIM:610655
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Episodic respiratory distress, Gait ataxia, Hyperventilation, Dysphagia, Dyspnea	ORPHA:255210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati...	ORPHA:308552
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Asthma, Urticaria, Vasculitis in the skin, Cutis marmorata, Pulmonary embol...	ORPHA:3260
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Rare Circulatory System Disease	Cyanosis	ORPHA:98028
Poems Syndrome	Pleural effusion, Restrictive ventilatory defect, Pulmonary arterial hypertension, Acrocyanosis, ...	ORPHA:2905
Auriculocondylar Syndrome	Respiratory distress, Snoring, Obstructive sleep apnea	ORPHA:137888
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ...	ORPHA:3342
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Pulmonary arterial hypertension, Jaundice, Leth...	ORPHA:79282
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Pneumonia	ORPHA:36234
Renal Dysplasia-Limb Defects Syndrome	Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death	OMIM:266910
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan...	OMIM:600376
Aortic Arch Interruption	Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea	ORPHA:2299
Pitt-Hopkins Syndrome	Sleep apnea, Ataxia, Gait ataxia, Hyperventilation, Abnormal pattern of respiration, Acrocyanosis	ORPHA:2896
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Dysmetria, Impaired oropharyngeal swallow response, Central sleep apnea, At...	OMIM:615273
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis	OMIM:261740
Japanese Encephalitis	Respiratory distress, Irregular respiration, Respiratory paralysis, Choreoathetosis, Abnormal pat...	ORPHA:79139
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Goodpasture Syndrome	Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ...	OMIM:233450
Mogs-Cdg	Respiratory distress, Apnea, Hypoventilation	ORPHA:79330
Listeriosis	Respiratory distress, Ataxia, Miscarriage, Respiratory failure, Pneumonia, Jaundice	ORPHA:533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Airway obstruction, Inability to walk, Pulmonary arterial hypertension, Str...	ORPHA:505248
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper...	ORPHA:97214
Q Fever	Respiratory distress, Cough, Purpura, Pleural effusion, Pneumonia	ORPHA:781
Fucosidosis	Vascular skin abnormality, Acrocyanosis	ORPHA:349
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Petechiae, Epistaxis, Cough, Ecchymosis, Pneumonia, Pleural effusion, Dyspn...	ORPHA:340
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension	ORPHA:99050
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Nocardiosis	Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ...	ORPHA:31204
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Purpura, Petechiae	ORPHA:2330
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Cryptococcosis	Respiratory distress, Cough, Pleural effusion, Pneumonia, Dyspnea	ORPHA:1546
Cocaine Intoxication	Respiratory distress, Wheezing, Cough, Tachypnea, Hyperventilation, Pneumothorax	ORPHA:90068
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato...	ORPHA:536467
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Familial Dysautonomia	Gait disturbance, Ataxia, Acrocyanosis	ORPHA:1764
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Adnp Syndrome	Respiratory distress, Polyphagia, Aspiration, Oral-pharyngeal dysphagia	ORPHA:404448
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Choreoathetosis, Unsteady gait	ORPHA:17
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Shuffling gait, U...	ORPHA:740
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles	OMIM:305100
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure	ORPHA:79404
Arboleda-Tham Syndrome	Respiratory distress, Gait imbalance, Recurrent aspiration pneumonia, Neonatal respiratory distre...	OMIM:616268
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Respiratory acidosis, Erythema, Fragile skin, Neonatal respiratory distress	OMIM:614748
Coccidioidomycosis	Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion	ORPHA:228123
Prader-Willi Syndrome Due To Translocation	Respiratory distress	ORPHA:177907
Dermatomyositis	Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Pulm...	ORPHA:221
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Cyanosis, Paroxysmal dyspnea, Apneic episodes in infancy, Respiratory failu...	ORPHA:99125
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Campomelic Dysplasia	Respiratory distress, Apnea, Tracheomalacia, Tracheobronchomalacia, Neonatal respiratory distress...	OMIM:114290
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis	OMIM:306955
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dysphagia, Asthma, Nasal flaring	ORPHA:466943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Generalized abnormality of skin, Chronic lung disease, Respiratory failure ...	ORPHA:95455
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Scimitar Syndrome	Respiratory distress, Pneumothorax, Pulmonary arterial hypertension, Cough	ORPHA:185
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Erythema, Respiratory failure	ORPHA:2556
Gitelman Syndrome	Respiratory distress, Salt craving, Polydipsia	ORPHA:358
Aicardi-Goutières Syndrome	Cutis marmorata, Difficulty walking, Acrocyanosis, Prolonged neonatal jaundice	ORPHA:51
Postinfectious Vasculitis	Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Acrocyanosis	ORPHA:48435
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Tuberous Sclerosis Complex	Respiratory distress, Generalized abnormality of skin, Respiratory failure	ORPHA:805
Schinzel-Giedion Syndrome	Dysphagia, Respiratory distress, Recurrent pneumonia	ORPHA:798
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Rubinstein-Taybi Syndrome 1	Respiratory distress, Unsteady gait, Obstructive sleep apnea	OMIM:180849
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Asthma	ORPHA:3206
Leptospirosis	Respiratory distress, Jaundice, Pleural effusion, Cough	ORPHA:509
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Pulmonary arterial hypertension	ORPHA:51608
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi...	ORPHA:287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Plague	Respiratory distress, Acute infectious pneumonia, Unsteady gait	ORPHA:707
Doors Syndrome	Aspiration pneumonia, Respiratory distress	ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Difficulty walking	ORPHA:480880
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Respiratory failure	ORPHA:3404
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis	ORPHA:285
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia, Waddling gait	ORPHA:99646
8Q24.3 Microdeletion Syndrome	Dysphagia, Respiratory distress	ORPHA:508488
Alström Syndrome	Respiratory distress, Ataxia, Chronic pulmonary obstruction, Recurrent sinusitis, Pulmonary arter...	ORPHA:64
Pmm2-Cdg	Aspiration pneumonia, Ataxia, Respiratory distress, Abnormal subcutaneous fat tissue distribution	ORPHA:79318
Generalized Pseudohypoaldosteronism Type 1	Cough, Wheezing	ORPHA:171876
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis	OMIM:613021
Brugada Syndrome		ORPHA:130
Liddle Syndrome 3		OMIM:618126
Pseudohypoaldosteronism, Type I, Autosomal Recessive		OMIM:264350
Liddle Syndrome		ORPHA:526

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 Scnn1a

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 Scnn1a.

No publications found that use IMPC mice or data for Scnn1a.

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MGI Allele	Allele Type	Produced
Scnn1a^{tm94891(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Scnn1a^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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