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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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
Scnn1atm94891(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Scnn1atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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