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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 (387 diseases)

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

Disease	Matching phenotypes	Source
Idiopathic Bronchiectasis	Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect...	ORPHA:60033
Generalized Pseudohypoaldosteronism Type 1	Wheezing, Cough	ORPHA:171876
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis	OMIM:613021
Pseudohypoaldosteronism, Type Ib1, 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
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Perching Syndrome	Respiratory distress, Cyanosis, Dysphagia	OMIM:617055
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop...	ORPHA:2004
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ...	ORPHA:1302
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Choreoathetosis, Lethargy	ORPHA:71277
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron...	ORPHA:137914
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Neuromuscular dysphagia, Falls, Respiratory distress	ORPHA:240085
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Aggressive behavior	OMIM:237310
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Succinic Acidemia	Respiratory distress	OMIM:600335
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough, Dysphagia	ORPHA:77260
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy...	ORPHA:264675
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Breath-Holding Spells	Cyanosis	OMIM:607578
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk	OMIM:617977
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G...	OMIM:619580
Hereditary Methemoglobinemia	Athetosis, Cyanosis, Exertional dyspnea	ORPHA:621
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ...	OMIM:610978
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Tip-toe gait, Progressive cerebellar ataxia	ORPHA:2596
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Respiratory distress, Dysphagia	ORPHA:240103
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Lethargy	ORPHA:26792
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Trunca...	OMIM:211530
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Anorexia, Tachypnea, Lethargy	ORPHA:79242
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Chiari Malformation Type Ii	Cyanosis, Ataxia, Inspiratory stridor, Dysphagia	OMIM:207950
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Nipah Virus Disease	Respiratory distress, Anorexia, Cough	ORPHA:99825
Congenital Myasthenic Syndrome	Waddling gait, Cyanosis, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insu...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Cyanosis, Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insu...	ORPHA:98914
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory...	OMIM:614299
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough	ORPHA:142
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation	OMIM:618232
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Congenital Diaphragmatic Hernia	Hypoxemia, Respiratory distress	ORPHA:2140
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Choreoathetosis, Lethargy, Respiratory distress, Anorexia	ORPHA:79312
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Respiratory distress, Dyspnea, Difficulty walking, Cough	ORPHA:86812
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Ataxia, Apnea, Difficulty walking	ORPHA:79097
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
X-Linked Centronuclear Myopathy	Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Pneu...	ORPHA:596
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:98805
Slc35A1-Cdg	Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage	ORPHA:238459
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ataxia, Petechiae	OMIM:602473
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Choreoathetosis, Dysphagia, Loss of ambulation, Paroxysmal bursts of laug...	ORPHA:391428
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Dysphagia, Loss of ambulation	OMIM:620166
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, H...	OMIM:618426
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Agitation, Lethargy, Abnormal repetitive mannerisms	ORPHA:927
Idiopathic Bronchiectasis	Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect...	ORPHA:60033
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Gait ataxia	OMIM:612075
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Evans Syndrome	Epistaxis, Dyspnea, Jaundice, Lethargy, Bruising susceptibility, Petechiae	ORPHA:1959
Dravet Syndrome	Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode	ORPHA:33069
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Choreoathetosis, Lethargy, Respiratory distress	ORPHA:289916
Arthrogryposis Multiplex Congenita 6	Death in infancy, Akinesia, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Buerger Disease	Acrocyanosis	ORPHA:36258
Tricuspid Atresia	Cyanosis	ORPHA:1209
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia	ORPHA:488627
Myasthenic Syndrome, Congenital, 21, Presynaptic	Respiratory insufficiency, Cyanosis, Apnea, Difficulty walking	OMIM:617239
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Lethargy, Inspiratory stridor, Irregular respiration	OMIM:604377
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Episodic Ataxia Type 1	Choreoathetosis, Tip-toe gait, Respiratory distress	ORPHA:37612
Ethylmalonic Encephalopathy	Acrocyanosis, Ataxia, Petechiae	ORPHA:51188
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Myotonic Dystrophy 1	Respiratory distress, Obsessive-compulsive trait, Dysphagia	OMIM:160900
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Telangiectasia	OMIM:608799
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia	ORPHA:89844
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav...	ORPHA:209905
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Moebius Syndrome	Respiratory distress, Dysdiadochokinesis, Gait disturbance, Dysphagia	OMIM:157900
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Oromandibular Dystonia	Respiratory distress, Dysphagia, Bruxism	ORPHA:93958
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Death in childhoo...	OMIM:220110
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor	ORPHA:100050
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Hypoventilation, Neonatal respiratory distress, Respiratory distress, Respiratory ...	ORPHA:98915
Isolated Atp Synthase Deficiency	Respiratory distress, Lethargy, Ataxia	ORPHA:254913
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Dysphagia, Neonatal death, Petechiae, Purpura	OMIM:608013
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal patte...	ORPHA:31826
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Cough, Asthma, Respiratory insufficiency, Urticaria, Gait disturbance...	ORPHA:183
Carnitine Deficiency, Systemic Primary	Respiratory distress, Lethargy	OMIM:212140
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Alternating Hemiplegia Of Childhood	Respiratory distress, Ataxia, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Im...	ORPHA:2131
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien...	OMIM:164310
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Truncal ataxia	OMIM:614407
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Inability to walk, Attention deficit hyperactivity disorder, Gait ataxia	OMIM:619383
Aicardi-Goutieres Syndrome 1	Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechia...	OMIM:225750
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa...	OMIM:616482
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness	ORPHA:544503
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Asp...	ORPHA:1199
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:3309
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea, Lethargy	ORPHA:26793
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Lethargy	OMIM:251000
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Myasthenia Gravis	Dyspnea, Acrocyanosis, Dysphagia	ORPHA:589
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Ataxia, Apnea, Respiratory insufficiency, Respiratory failure, Lethargy	OMIM:252010
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Lethargy, Jaundice, Death in infancy	OMIM:617156
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Lethargy, Hyperventilation	ORPHA:79241
Kniest Dysplasia	Respiratory distress, Gait disturbance, Tracheomalacia	OMIM:156550
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar...	ORPHA:363705
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Lethargy, Pneumothorax	OMIM:620306
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia	ORPHA:438216
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk...	OMIM:187300
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Lethargy, Recurrent pneumonia	OMIM:607143
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Inability to walk, Recurrent pneumonia, Death in childhood	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator...	ORPHA:293987
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy	OMIM:251110
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Dysphagia, Restrictive ventilatory defect, Cough, Polydipsia	ORPHA:537
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Dysphagia, Ecchymosis, Purpura	ORPHA:319213
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
3-Methylglutaconic Aciduria, Type Viib	Choreoathetosis, Recurrent pneumonia, Ataxia, Respiratory distress	OMIM:616271
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis	ORPHA:268943
Pitt-Hopkins Syndrome	Ataxia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocyanosis, Abnormal pattern...	ORPHA:2896
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Unsteady gait	OMIM:618733
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w...	ORPHA:365
Japanese Encephalitis	Respiratory distress, Anorexia, Choreoathetosis, Respiratory paralysis, Abnormal pattern of respi...	ORPHA:79139
Histiocytoid Cardiomyopathy	Lethargy, Cyanosis, Tachypnea, Cough	ORPHA:137675
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Tarp Syndrome	Broad-based gait, Cyanosis, Apnea	ORPHA:2886
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Restrictive ventilatory defect, Respiratory distress	OMIM:183900
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Q Fever	Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura	ORPHA:781
Adnp Syndrome	Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, A...	ORPHA:404448
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Apnea, Dyspnea, Episodic respiratory distress, Gait ataxia, Dysphagia, Hyperventilation	ORPHA:255210
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Cough, Dyspnea, Angioedema, Asthma, Ur...	ORPHA:3260
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy	OMIM:251100
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores...	ORPHA:3342
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Broad-based gait, Ataxia, Jaundice, Prolonged neonatal jaundice, Loss of am...	OMIM:256810
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors,...	ORPHA:177907
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Dysmetria, Athetosis, Impaired oro...	OMIM:615273
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension, Leth...	ORPHA:79282
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy...	ORPHA:340
Tuberous Sclerosis Complex	Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha...	ORPHA:805
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Aggressive behavior, Unsteady gait, Choreoathetosis	ORPHA:17
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation	ORPHA:90068
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Listeriosis	Respiratory distress, Ataxia, Pneumonia, Miscarriage, Jaundice, Respiratory failure	ORPHA:533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Inability to walk, Stridor, Pulmonary arterial hypertension, Airway obstruc...	ORPHA:505248
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Pleural effusion, Respiratory distress	OMIM:620369
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Familial Dysautonomia	Acrocyanosis, Ataxia, Gait disturbance	ORPHA:1764
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Ramos-Arroyo Syndrome	Respiratory distress, Self-mutilation	ORPHA:1051
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Mgat2-Cdg	Respiratory distress, Stereotypical hand wringing	ORPHA:79329
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Beare-Stevenson Cutis Gyrata Syndrome	Palmoplantar cutis laxa, Respiratory distress	OMIM:123790
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv...	ORPHA:466943
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Urticaria, Interstitial pneumonitis, Pneumonia, Respiratory distress	ORPHA:37042
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Shuffling gait, Pulmonar...	ORPHA:740
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Gait imbalance, Dysphagia, Abnormal repetiti...	OMIM:616268
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis	OMIM:306955
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Leptospirosis	Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion	ORPHA:509
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hyperactivity, Impulsivity, Unsteady gait, Self-mutilation	OMIM:180849
Gitelman Syndrome	Respiratory distress, Polydipsia, Salt craving	ORPHA:358
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Erythema	ORPHA:2556
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Difficulty walking, Prolonged neonatal jaundice	ORPHA:51
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Dysphagia	ORPHA:798
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Plague	Respiratory distress, Unsteady gait, Acute infectious pneumonia, Anorexia	ORPHA:707
8Q24.3 Microdeletion Syndrome	Respiratory distress, Hyperactivity, Tics, Dysphagia	ORPHA:508488
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Difficulty walking	ORPHA:480880
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Recurrent pneumonia, Respiratory distress	ORPHA:99646
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Ataxia, Chronic pulmonary obstruction, Recurrent pne...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Ataxia, Aspiration pneumonia	ORPHA:79318
Generalized Pseudohypoaldosteronism Type 1	Wheezing, Cough	ORPHA:171876
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis	OMIM:613021
Brugada Syndrome		ORPHA:130
Liddle Syndrome 3		OMIM:618126
Liddle Syndrome		ORPHA:526
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive		OMIM:264350

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.

Order Mouse and ES Cells

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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

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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