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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 (388 diseases)

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

Disease	Matching phenotypes	Source
Idiopathic Bronchiectasis	Dyspnea	ORPHA:60033
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive		OMIM:264350
Liddle Syndrome 3		OMIM:618126
Brugada Syndrome		ORPHA:130
Generalized Pseudohypoaldosteronism Type 1		ORPHA:171876
Liddle Syndrome		ORPHA:526
Bronchiectasis With Or Without Elevated Sweat Chloride 2		OMIM:613021

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

Disease	Matching phenotypes	Source
Perching Syndrome	Respiratory distress, Dysphagia, Cyanosis	OMIM:617055
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
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
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Apnea, Death in infancy	OMIM:610992
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia	OMIM:619751
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
High Altitude Pulmonary Edema	Cyanosis, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia	ORPHA:330012
Laryngotracheoesophageal Cleft	Dyspnea, Cyanosis, Choking episodes, Impaired oropharyngeal swallow response	ORPHA:2004
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Lethargy, Central apnea, Ataxia, Choreoathetosis	ORPHA:71277
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Neuromuscular dysphagia, Falls	ORPHA:240085
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:254210
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cyanosis	OMIM:263000
Succinic Acidemia	Respiratory distress	OMIM:600335
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea	ORPHA:141152
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Gaucher Disease Type 2	Respiratory distress, Dysphagia, Abnormal pattern of respiration	ORPHA:77260
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Anorexia, Dyspnea, Hypoxemia	ORPHA:1302
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Breath-Holding Spells	Cyanosis	OMIM:607578
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea	OMIM:265120
Choanal Atresia	Respiratory distress, Choking episodes, Cyanosis	ORPHA:137914
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk	OMIM:617977
Hereditary Methemoglobinemia	Athetosis, Exertional dyspnea, Cyanosis	ORPHA:621
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Apnea, Recurrent hand flapping, Gait ataxia, Cyanosis, Aggressive behavior, At...	OMIM:619580
Pleural Mesothelioma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:50251
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Myopathy And Diabetes Mellitus	Respiratory distress, Tip-toe gait, Inability to walk, Progressive cerebellar ataxia	ORPHA:2596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Lethargy, Dysphagia	OMIM:613561
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:140896
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Immunodeficiency 95	Respiratory distress	OMIM:619773
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia, Dysphagia	ORPHA:240103
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Lethargy	ORPHA:26792
Infant Acute Respiratory Distress Syndrome	Cyanosis, Tachypnea, Nasal flaring, Hypoxemia	ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy...	OMIM:610921
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea	ORPHA:1832
Laryngomalacia	Respiratory distress	OMIM:150280
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis	ORPHA:2414
Holocarboxylase Synthetase Deficiency	Respiratory distress, Anorexia, Lethargy, Tachypnea, Ataxia	ORPHA:79242
Recurrent Respiratory Papillomatosis	Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia	ORPHA:60032
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Dysphagia	OMIM:614399
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea, Hyperoxemia	ORPHA:70589
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior, Tachypnea, Lethargy, Anorexia	OMIM:237310
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Lethargy, Choreoathetosis, Anorexia	ORPHA:79312
Acute Lung Injury	Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Hypoxemia	ORPHA:178320
Folinic Acid-Responsive Seizures	Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Ataxia	ORPHA:79097
Primary Dystonia, Dyt4 Type	Respiratory distress, Gait disturbance, Dysphagia, Dysdiadochokinesis	ORPHA:98805
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy, Ataxia	OMIM:602473
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Difficulty walking, Dysphagia	ORPHA:254875
Nipah Virus Disease	Respiratory distress, Anorexia	ORPHA:99825
Pulmonary Alveolar Proteinosis, Acquired	Dyspnea, Hypoxemia, Cyanosis	OMIM:610910
Congenital Myasthenic Syndrome	Tip-toe gait, Difficulty walking, Cyanosis, Episodic respiratory distress, Ataxia, Apneic episode...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Difficulty walking, Cyanosis, Episodic respiratory distress, Ataxia, Apneic episode...	ORPHA:98914
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Hsd10 Disease, Infantile Type	Cyanosis, Loss of ambulation, Dysphagia, Restlessness, Paroxysmal bursts of laughter, Choreoathet...	ORPHA:391428
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Difficulty walking, Dyspnea, Waddling gait	ORPHA:86812
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Hypoventilation, Neonatal death	OMIM:618232
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Addictive alcohol use, Tachypnea, Lethargy, Dyspnea, Hypoxemia	ORPHA:36238
Asbestos Intoxication	Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia	ORPHA:2302
Neuralgic Amyotrophy	Acrocyanosis	ORPHA:2901
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea, Hypoxemia	ORPHA:264675
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Ataxia, Motor stereotypy, Agitation	ORPHA:927
Postsynaptic Congenital Myasthenic Syndromes	Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Dysphagia, Loss of ambulation	OMIM:620375
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Lethargy, Tachypnea, Ataxia	OMIM:614299
Dravet Syndrome	Obsessive-compulsive trait, Progressive gait ataxia, Cyanotic episode, Bradykinesia, Impulsivity	ORPHA:33069
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
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
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Death in childhood, Ataxia, Dysp...	OMIM:211530
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
Chiari Malformation Type Ii	Dysphagia, Cyanosis, Ataxia	OMIM:207950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Lethargy, Choreoathetosis	ORPHA:289916
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Jaundice, Lethargy, Gait disturbance	OMIM:250940
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Dysphagia, Loss of ambulation, Ataxia	OMIM:620166
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Respiratory distress, Difficulty walking, Oxygen desaturation on exertion, Tach...	OMIM:610978
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy	OMIM:615042
Primary Pulmonary Hypoplasia	Hypoxemia, Tachypnea, Apnea, Cyanosis	ORPHA:2257
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Familial Nasal Acilia	Respiratory distress, Dyspnea	ORPHA:922
Tricuspid Atresia	Cyanosis	ORPHA:1209
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Cyanosis, Ataxia	OMIM:618426
Idiopathic Pulmonary Fibrosis	Acrocyanosis, Orthodeoxia, Exertional dyspnea	ORPHA:2032
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Gait imbalance, Cyanosis, Aggressive behavior, Gait disturbance, Dysphagia	ORPHA:488627
X-Linked Centronuclear Myopathy	Respiratory distress, Inability to walk	ORPHA:596
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ataxia	ORPHA:51188
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Choreoathetosis	ORPHA:37612
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:142
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Lethargy, Death in infancy, Irregular respiration	OMIM:604377
Myotonic Dystrophy 1	Respiratory distress, Dysphagia, Obsessive-compulsive trait	OMIM:160900
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Autoimmune Pulmonary Alveolar Proteinosis	Dyspnea, Hypoxemia, Cyanosis	ORPHA:747
Acute Interstitial Pneumonia	Dyspnea, Tachypnea, Hypoxemia, Cyanosis	ORPHA:79126
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia, Ataxia	OMIM:608799
Isolated Right Ventricular Hypoplasia	Dyspnea, Hypoxemia, Cyanosis	ORPHA:439
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia	ORPHA:89844
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Paroxysmal dyspnea	ORPHA:444013
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia	OMIM:610913
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Moebius Syndrome	Respiratory distress, Gait disturbance, Dysphagia, Dysdiadochokinesis	OMIM:157900
Oromandibular Dystonia	Respiratory distress, Bruxism, Dysphagia	ORPHA:93958
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Cyanosis, Sudden episodic apnea	ORPHA:159
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Myasthenic Syndrome, Congenital, 21, Presynaptic	Difficulty walking, Apnea, Cyanosis	OMIM:617239
Multiple Mitochondrial Dysfunctions Syndrome 7	Apnea, Agitation, Cyanosis, Lethargy, Hyperactivity, Impulsivity	OMIM:620423
Pulmonary Capillary Hemangiomatosis	Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis	ORPHA:199241
Alfadhel Syndrome	Aggressive behavior, Nasal flaring	OMIM:620655
Isolated Atp Synthase Deficiency	Respiratory distress, Lethargy, Ataxia	ORPHA:254913
Mitochondrial Phosphate Carrier Deficiency	Cyanosis	OMIM:610773
Gaucher Disease, Perinatal Lethal	Respiratory distress, Akinesia, Apnea, Petechiae, Neonatal death, Purpura, Dysphagia	OMIM:608013
Avian Influenza	Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage	ORPHA:454836
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Necrotizing Enterocolitis	Lethargy, Apnea, Cyanosis	ORPHA:391673
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Carnitine Deficiency, Systemic Primary	Respiratory distress, Lethargy	OMIM:212140
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Mercury Poisoning	Respiratory distress, Dyspnea, Anorexia	ORPHA:330021
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Addictive alcohol use, ...	ORPHA:31826
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Attention deficit hyperactivity disorder, Gait ataxia, Inability to walk	OMIM:619383
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Dyspnea	ORPHA:411703
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Truncal ataxia, Acrocyanosis	OMIM:614407
Congenital Heart Block	Cyanosis	ORPHA:60041
Meconium Aspiration Syndrome	Respiratory distress, Hypoxemia	ORPHA:70588
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness	ORPHA:544503
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal jaundice, Jaundi...	OMIM:615512
Alternating Hemiplegia Of Childhood	Ataxia, Oral-pharyngeal dysphagia, Respiratory distress, Flushing, Apnea, Aggressive behavior, An...	ORPHA:2131
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia	ORPHA:860
Hereditary Angioedema Type 1	Dermatographic urticaria, Respiratory distress, Dyspnea, Dysphagia, Urticaria	ORPHA:100050
Sepsis In Premature Infants	Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Purpura, Ataxia, Acrocyanosis, Urticaria	ORPHA:343
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility	ORPHA:335
Aicardi-Goutieres Syndrome 1	Erythema, Inability to walk, Petechiae, Self-mutilation, Prolonged neonatal jaundice, Acrocyanosi...	OMIM:225750
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Complete Atrioventricular Septal Defect	Lethargy, Tachypnea, Intercostal retractions, Cyanosis	ORPHA:1329
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea	ORPHA:2759
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Exertional dyspnea, Ataxia, Truncal ataxia	OMIM:220110
Tetrasomy 5P	Respiratory distress, Cyanosis	ORPHA:3309
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Lethargy, Jaundice	ORPHA:26793
Pulmonary Arteriovenous Malformation	Dyspnea, Cyanosis, Hypoxemia, Telangiectasia	ORPHA:2038
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Brain-Lung-Thyroid Syndrome	Falls, Respiratory distress, Abnormal eating behavior, Abnormal drinking behavior, Hyperactivity,...	ORPHA:209905
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Exertional dyspnea, Dysphagia, Waddling gait	ORPHA:98915
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Palmoplantar cutis laxa, Central apnea, Neonatal death	OMIM:616482
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress	ORPHA:1145
Double Outlet Right Ventricle	Tachypnea, Cyanosis	ORPHA:3426
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Hypoxemia	ORPHA:555874
Myasthenia Gravis	Dyspnea, Acrocyanosis, Dysphagia	ORPHA:589
Chitayat Syndrome	Respiratory distress	OMIM:617180
Tularemia	Respiratory distress	ORPHA:3392
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Dysphagia, Death in childhood, Death in infancy	OMIM:620278
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Lethargy	OMIM:251000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Lethargy, Death in infancy	OMIM:617156
Biotinidase Deficiency	Respiratory distress, Apnea, Lethargy, Ataxia, Hyperventilation	ORPHA:79241
Cardiogenic Shock	Dyspnea, Cyanosis, Orthopnea, Hypoxemia	ORPHA:97292
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Esophageal Atresia	Respiratory distress, Cyanosis, Oral aversion, Episodic respiratory distress, Dysphagia	ORPHA:1199
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Eosinophilic Granulomatosis With Polyangiitis	Cutis marmorata, Purpura, Gait disturbance, Dysphagia, Acrocyanosis, Urticaria	ORPHA:183
Atrial Septal Defect, Ostium Primum Type	Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis	ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 1	Apnea, Cyanosis, Death in infancy, Lethargy, Ataxia	OMIM:252010
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Ataxia	ORPHA:438216
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin	ORPHA:367
Kniest Dysplasia	Respiratory distress, Gait disturbance	OMIM:156550
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Craniofaciofrontodigital Syndrome	Premature skin wrinkling, Respiratory distress, Palmoplantar cutis laxa, Prominent superficial ve...	ORPHA:363705
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Hypoxemia	ORPHA:60025
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Oculopharyngodistal Myopathy 1	Respiratory distress, Difficulty walking, Ataxia, Dysphagia, Hypercapnia	OMIM:164310
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Death in childhood, Inability to walk	OMIM:617303
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Lethargy	OMIM:607143
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea	ORPHA:2707
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Waardenburg Syndrome Type 3	Acrocyanosis	ORPHA:896
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal pattern of respiration, Gait ataxia, Aggressive behavior, Ataxi...	ORPHA:2896
Atrial Septal Defect, Coronary Sinus Type	Dyspnea, Exertional dyspnea, Cyanosis	ORPHA:99104
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Lethargy	OMIM:620306
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Choreoathetosis, Ataxia	OMIM:616271
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy	OMIM:251110
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cyanosis	OMIM:261740
Unilateral Polymicrogyria	Apnea, Cyanosis, Pseudobulbar paralysis	ORPHA:268943
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Atrial Septal Defect, Ostium Secundum Type	Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:99103
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Polydipsia, Central hypoventilation, Cyanosis, Hypoventilation, Polyphag...	ORPHA:293987
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Irregular respiration, Anorexia, Choreoath...	ORPHA:79139
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis	ORPHA:1867
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Gait ataxia, Episodic respiratory distress, Ataxia, Dyspnea, Hyperventilation, Dysphagia	ORPHA:255210
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Tarp Syndrome	Broad-based gait, Apnea, Cyanosis	ORPHA:2886
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Lethargy	OMIM:251100
Congenital Tracheomalacia	Dyspnea, Apnea, Cyanosis, Intercostal retractions	ORPHA:95430
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Neuroblastoma	Respiratory distress, Antalgic gait, Ataxia	ORPHA:635
Histiocytoid Cardiomyopathy	Lethargy, Tachypnea, Cyanosis	ORPHA:137675
Criss-Cross Heart	Cyanosis	ORPHA:1461
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Respiratory distress, Loss of ambulation, Ataxia, Prolonged neonatal jaundice, ...	OMIM:256810
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Respiratory distress, Skin-picking, Attention deficit hyp...	ORPHA:177907
Congenital Disorder Of Deglycosylation 1	Athetosis, Oral-pharyngeal dysphagia, Respiratory distress, Impaired oral bolus formation, Dysmet...	OMIM:615273
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Polydipsia, Dysphagia	ORPHA:537
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Respiratory distress, Polyphagia, Attention ...	ORPHA:404448
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Unsteady gait	OMIM:618733
Lujo Hemorrhagic Fever	Respiratory distress, Purpura, Dysphagia, Ecchymosis	ORPHA:319213
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te...	OMIM:610655
Double Outlet Left Ventricle	Tachypnea, Cyanosis	ORPHA:3427
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Mogs-Cdg	Respiratory distress, Apnea, Hypoventilation	ORPHA:79330
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Waddling gait	OMIM:183900
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis	ORPHA:2299
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Aggressive behavior, Unsteady gait, Choreoathetosis	ORPHA:17
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang...	OMIM:187300
Diaphanospondylodysostosis	Respiratory distress	OMIM:608022
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Absence Of The Pulmonary Artery	Dyspnea, Orthopnea, Cyanosis, Hypocapnia	ORPHA:980
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Difficulty walking, Inability to walk, Exertional dyspnea, Orthopnea, Dysph...	ORPHA:365
Arterial Tortuosity Syndrome	Respiratory distress, Prematurely aged appearance, Dyspnea, Telangiectasia of the skin	ORPHA:3342
Tuberous Sclerosis Complex	Self-injurious behavior, Generalized abnormality of skin, Respiratory distress, Aggressive behavi...	ORPHA:805
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Infantile Krabbe Disease	Respiratory distress	ORPHA:206436
Bacterial Toxic-Shock Syndrome	Respiratory distress, Tachypnea, Ecchymosis	ORPHA:36234
Achondroplasia	Respiratory distress, Death in infancy	OMIM:100800
Q Fever	Respiratory distress, Purpura, Anorexia	ORPHA:781
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress	ORPHA:2519
Osteogenesis Imperfecta, Type X	Respiratory distress, Death in childhood	OMIM:613848
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Meckel Syndrome 14	Cyanosis	OMIM:619879
Idiopathic Hypereosinophilic Syndrome	Angioedema, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Dyspnea, Dysphagia, Ur...	ORPHA:3260
Familial Dysautonomia	Gait disturbance, Acrocyanosis, Ataxia	ORPHA:1764
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Congenital Tracheal Stenosis	Respiratory distress, Dyspnea, Cyanosis	ORPHA:141127
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Jaundice, Lethargy, Ataxia	ORPHA:79282
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Radio-Renal Syndrome	Respiratory distress, Dyspnea	ORPHA:3015
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Waddling gait	OMIM:620369
Ramos-Arroyo Syndrome	Respiratory distress, Self-mutilation	ORPHA:1051
Mgat2-Cdg	Respiratory distress, Stereotypical hand wringing	ORPHA:79329
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress	OMIM:217980
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Farber Disease	Respiratory distress	ORPHA:333
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Listeriosis	Respiratory distress, Jaundice, Miscarriage, Ataxia	ORPHA:533
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Exertional dyspnea, Cyanosis	ORPHA:99050
Cocaine Intoxication	Respiratory distress, Hyperventilation, Tachypnea, Agitation	ORPHA:90068
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Petechiae, Ecchymosis, Dyspnea, Agitation	ORPHA:340
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Lethargy, Exertional dyspnea, Hypoxemia	ORPHA:97214
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Urticaria	ORPHA:37042
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Nasal fla...	ORPHA:466943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Inability to walk	ORPHA:505248
Idiopathic Bronchiectasis	Dyspnea	ORPHA:60033
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Bruising susceptibility	ORPHA:536467
Poems Syndrome	Acrocyanosis, Plethora	ORPHA:2905
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis	OMIM:306955
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia	OMIM:305100
Hutchinson-Gilford Progeria Syndrome	Shuffling gait, Generalized abnormality of skin, Premature skin wrinkling, Cyanosis, Exertional d...	ORPHA:740
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy	OMIM:224690
Arboleda-Tham Syndrome	Respiratory distress, Gait imbalance, Motor stereotypy, Dysphagia	OMIM:616268
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Cryptococcosis	Respiratory distress, Dyspnea	ORPHA:1546
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress	ORPHA:308552
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Nocardiosis	Respiratory distress, Dyspnea, Anorexia	ORPHA:31204
Goodpasture Syndrome	Tachypnea, Exertional dyspnea, Cyanosis	OMIM:233450
Postinfectious Vasculitis	Palpable purpura, Anorexia, Cutis marmorata, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Rubinstein-Taybi Syndrome 1	Respiratory distress, Self-mutilation, Hyperactivity, Unsteady gait, Impulsivity	OMIM:180849
Gitelman Syndrome	Respiratory distress, Salt craving, Polydipsia	ORPHA:358
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea	ORPHA:2554
Dermatomyositis	Erythema, Shawl sign, V-sign, Cutaneous photosensitivity, Facial erythema, Telangiectasia of the ...	ORPHA:221
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Erythema, Dyspnea	ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Dyspnea, Fragile skin	ORPHA:79404
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Aicardi-Goutières Syndrome	Difficulty walking, Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice	ORPHA:51
Leptospirosis	Respiratory distress, Jaundice, Anorexia	ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea	ORPHA:99125
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis	OMIM:259900
Schinzel-Giedion Syndrome	Respiratory distress, Dysphagia	ORPHA:798
Truncus Arteriosus	Tachypnea, Cyanosis	ORPHA:3384
Coccidioidomycosis	Respiratory distress	ORPHA:228123
Campomelic Dysplasia	Respiratory distress, Apnea	OMIM:114290
8Q24.3 Microdeletion Syndrome	Respiratory distress, Tics, Dysphagia, Hyperactivity	ORPHA:508488
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Erythema, Fragile skin	OMIM:614748
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Scimitar Syndrome	Respiratory distress	ORPHA:185
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Generalized abnormality of skin, Oral-pharyngeal dysphagia, Anorexia	ORPHA:95455
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis	ORPHA:416
Plague	Respiratory distress, Unsteady gait, Anorexia	ORPHA:707
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea	ORPHA:3206
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Prematurely aged appearanc...	ORPHA:287
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis	ORPHA:51608
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
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
Doors Syndrome	Respiratory distress	ORPHA:79500
Hypermobile Ehlers-Danlos Syndrome	Apnea, Acrocyanosis, Bruising susceptibility	ORPHA:285
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Ulbright-Hodes Syndrome	Respiratory distress	ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait	ORPHA:99646
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Ataxia	ORPHA:79318
Alström Syndrome	Respiratory distress, Polyphagia, Dorsocervical fat pad, Ataxia	ORPHA:64
Brugada Syndrome		ORPHA:130
Liddle Syndrome 3		OMIM:618126
Generalized Pseudohypoaldosteronism Type 1		ORPHA:171876
Liddle Syndrome		ORPHA:526
Bronchiectasis With Or Without Elevated Sweat Chloride 2		OMIM:613021
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

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

MGI Allele	Allele Type	Produced
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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