Gene Summary

trinucleotide repeat containing 6C

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Tnrc6c mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tnrc6c by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Cyanosis, Recurrent upper respirator... OMIM:263000
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Airway obstruction, Reduced FEV1/... ORPHA:1303
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... ORPHA:91359
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Asbestos Intoxication
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... ORPHA:2302
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Cryptogenic Organizing Pneumonia
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... ORPHA:1302
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Pneumonia, Respiratory tract infection, Hypoxemia, Respirat... ORPHA:70587
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Succinic Acidemia
Respiratory distress OMIM:600335
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Nonpro... ORPHA:79127
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Recurrent respiratory infec... OMIM:619466
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Primary Pulmonary Hypoplasia
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypoplasia, Abnormal breath sound, Re... ORPHA:2257
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hemothorax, Cyanosis, Elevated pulmonary artery ... ORPHA:199241
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough ORPHA:77260
Breath-Holding Spells
Cyanosis OMIM:607578
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreas... ORPHA:747
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Perching Syndrome
Respiratory distress OMIM:617055
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Pneumonia, Hypoxemia... ORPHA:178320
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction ORPHA:100057
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... OMIM:613490
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Oxygen desaturation on exertion, Respiratory distress, Asthma, Cystic pattern on pulmonary HRCT, ... OMIM:610978
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Neonatal death OMIM:601612
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... ORPHA:70588
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... ORPHA:60025
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Postsynaptic Congenital Myasthenic Syndromes
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... ORPHA:98913
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... OMIM:606763
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Pneumothorax, Cough, Productiv... ORPHA:454836
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Abnormal pulmonary interstitial morphology, Pneumothorax, Pulmonary arterial hype... OMIM:612387
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Multiple pulmonary cysts, Nonproductive cough, Interstitial pneumonitis, Respiratory insufficienc... ORPHA:723
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Pulmonary Arteriovenous Malformation
Hemothorax, Pleural empyema, Pulmonary hemorrhage, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiec... ORPHA:2038
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Crackles, Reticular pattern on pulmonary HRCT, Decreased DLCO, Cough, Usual interstitial pneumoni... OMIM:614742
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Respiratory distress ORPHA:673
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Cough, Abnormal breath sound, Restrictive ventilatory defec... ORPHA:210136
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure ORPHA:444013
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... ORPHA:98914
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... OMIM:211530
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Cyanosis, Respiratory failure requiring assisted ventilation, ... ORPHA:555874
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... ORPHA:1329
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Lymphatic Malformation 12
Recurrent upper and lower respiratory tract infections, Pleural thickening, Death in adolescence,... OMIM:620014
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Cough, Pulmonary arterial medial hypertrophy, Dyspnea, Telang... OMIM:178600
Tetrasomy 5P
Respiratory distress, Cyanosis, Pulmonary hypoplasia, Pulmonary arterial hypertension, Recurrent ... ORPHA:3309
Respiratory distress ORPHA:66637
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Tracheal Stenosis
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... ORPHA:141127
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Pulmonary artery... ORPHA:99106
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Respiratory distress, Death in infancy ORPHA:166272
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pulmonary hypoplasia, Jaundice, Neonatal death OMIM:231680
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Cyanosis, Pneumonia, Dyspnea, Exertional dyspnea, Pulmonary ar... ORPHA:99104
Sepsis In Premature Infants
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... ORPHA:90051
Odontochondrodysplasia 1
Respiratory distress, Pulmonary hypoplasia, Death in infancy, Recurrent respiratory infections OMIM:184260
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Anomalous pulmonary venous return, Tachypnea ORPHA:860
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Pulmonary artery atresi... ORPHA:99050
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Absence Of The Pulmonary Artery
Pulmonary edema, Nonproductive cough, Cyanosis, Orthopnea, Pulmonary hypoplasia, Recurrent pneumo... ORPHA:980
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... ORPHA:99103
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Recurrent respiratory ... OMIM:301790
Criss-Cross Heart
Respiratory insufficiency, Cyanosis ORPHA:1461
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:617895
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Goodpasture Syndrome
Increased DLCO, Nodular pattern on pulmonary HRCT, Cyanosis, Pulmonary hemorrhage, Crackles, Reti... OMIM:233450
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Respiratory distress ORPHA:370924
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Double Outlet Right Ventricle
Cyanosis, Tachypnea, Pulmonary artery atresia ORPHA:3426
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Rodrigues Blindness
Nasal flaring, Ectodermal dysplasia OMIM:268320
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... ORPHA:98915
Congenital Fibrinogen Deficiency
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage ORPHA:335
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Cyanosis, Sudden episodic apnea ORPHA:159
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Cutis marmorata, Recurrent intrapulmonary hemorrhage, Respiratory i... ORPHA:183
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Pneumonia, Inspiratory stridor ORPHA:1136
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia OMIM:608013
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Cyanosis, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Telangiectasia, Hereditary Hemorrhagic, Type 1
Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Lip telangiectasia, Fi... OMIM:187300
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia ORPHA:896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Meckel Syndrome 14
Pneumothorax, Cyanosis, Cardiorespiratory arrest, Pulmonary hypoplasia OMIM:619879
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dyspnea ORPHA:100050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia, Jaundice ORPHA:26793
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Respiratory insufficiency, Generalized abnormality of skin ORPHA:367
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... ORPHA:308552
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Scimitar Syndrome
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... ORPHA:185
Radio-Renal Syndrome
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Cyanosis OMIM:619580
Brain-Lung-Thyroid Syndrome
Respiratory distress, Asthma, Abnormal pulmonary interstitial morphology, Recurrent pneumonia, Re... ORPHA:209905
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Conjunctival telangiectasia, Pulmonary arteriovenous malformation, Spontaneous, recurre... OMIM:610655
Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia OMIM:608022
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Dravet Syndrome
Cyanotic episode ORPHA:33069
Craniofaciofrontodigital Syndrome
Respiratory distress, Palmoplantar cutis laxa, Prominent superficial veins, Premature skin wrinkl... ORPHA:363705
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Death in childhood, Recurrent pneumo... OMIM:617303
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Respiratory distress, Tachypnea ORPHA:3299
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Pneumothorax, Respiratory failure OMIM:266910
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Moebius Syndrome
Respiratory distress OMIM:157900
Acquired Purpura Fulminans
Macular purpura, Acrocyanosis ORPHA:49566
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Respiratory tract infection, Pneumonia ORPHA:36234
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Apnea, Respiratory failure, Central hypoventilation ORPHA:70474
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Cyanosis, Mixed total ... ORPHA:99125
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Pulmona... OMIM:600376
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Unilateral Polymicrogyria
Epistaxis, Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... ORPHA:3342
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Toxic Epidermal Necrolysis
Respiratory distress, Erythema, Abnormal pleura morphology, Cough, Restrictive ventilatory defect... ORPHA:537
Q Fever
Respiratory distress, Abnormal pulmonary interstitial morphology, Cough, Purpura, Pleural effusio... ORPHA:781
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Myasthenia Gravis
Dyspnea, Acrocyanosis ORPHA:589
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Mitochondrial Complex I Deficiency, Nuclear Type 1
Apnea, Cyanosis, Respiratory insufficiency, Death in infancy, Respiratory failure OMIM:252010
Respiratory distress, Nonproductive cough, Pleuritis, Productive cough, Pleural effusion, Pneumon... ORPHA:31204
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Respiratory distress, Apnea, Pulmonary edema, Hypoventilation ORPHA:79330
Truncus Arteriosus
Pulmonary edema, Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Abnorma... ORPHA:3384
Tarp Syndrome
Apnea, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pleural effusion, Pneumonia, Dyspnea ORPHA:1546
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Urticaria, Vasculitis in the skin, Cutis marmorata, Pulmonary embol... ORPHA:3260
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery ... OMIM:616749
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... OMIM:164310
Farber Disease
Respiratory distress, Respiratory insufficiency, Recurrent upper respiratory tract infections, No... ORPHA:333
Histiocytoid Cardiomyopathy
Cyanosis, Pulmonary edema, Cough, Tachypnea ORPHA:137675
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Tachypnea, Wheezing, Cough, Hyperventilation, Pneumothorax... ORPHA:90068
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Auriculocondylar Syndrome
Respiratory distress, Snoring, Obstructive sleep apnea ORPHA:137888
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Petechiae, Pulmonary edema, Epistaxis, Cough, Ecchymosis, Pleural effusion,... ORPHA:340
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Respiratory acidosis, Erythema, Abnormal pulmonary interstitial morphology,... OMIM:614748
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis, Recurrent infections due to aspiration OMIM:223900
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Respiratory tract infect... ORPHA:365
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Asthma, Central hypoventilation, Cyanosis, Recurrent upper respiratory tract infections, Recurren... ORPHA:293987
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Telangiectasia of the skin, Lung adenocarcinoma, Recurrent respiratory infections, Respiratory in... ORPHA:221
Lujo Hemorrhagic Fever
Respiratory distress, Nonproductive cough, Crackles, Purpura, Ecchymosis, Rhinitis ORPHA:319213
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, 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
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Bruising susceptibility, Tracheomalacia, Repeated pneumothoraces, Respirato... ORPHA:536467
Vascular skin abnormality, Acrocyanosis ORPHA:349
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Flushing, Aspiration ORPHA:2131
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia, Recurrent respiratory infec... ORPHA:37042
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Pulmonary arterial hypertension, Stridor, Recurrent res... ORPHA:505248
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Purpura, Petechiae ORPHA:2330
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia, Jaundice ORPHA:533
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... ORPHA:97214
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Recurrent respiratory infections ORPHA:1764
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:79329
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Pitt-Hopkins Syndrome
Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Sleep apnea ORPHA:2896
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism ORPHA:79282
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure ORPHA:79404
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles OMIM:305100
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Campomelic Dysplasia
Respiratory distress, Apnea, Tracheomalacia, Recurrent upper respiratory tract infections, Recurr... OMIM:114290
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Recurrent respiratory infections ORPHA:17
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections ORPHA:177907
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion ORPHA:228123
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Tuberous Sclerosis Complex
Respiratory distress, Generalized abnormality of skin, Respiratory tract infection, Pulmonary lym... ORPHA:805
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Apnea, Episodic respiratory distress, Hyperventilation ORPHA:255210
Isolated Arrhinia
Respiratory distress ORPHA:1134
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Generalized abnormality of skin, Upper airway obst... ORPHA:740
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Central sleep apnea, Recurrent respiratory infections OMIM:615273
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Vasculitis in the skin, Cutis marmorata, Palpable ... ORPHA:48435
Respiratory distress, Pulmonary hemorrhage, Cough, Pleural effusion, Jaundice ORPHA:509
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Arboleda-Tham Syndrome
Respiratory distress, Recurrent aspiration pneumonia, Recurrent respiratory infections, Neonatal ... OMIM:616268
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure ORPHA:2556
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Generalized abnormality of skin, Chronic lung disease, Respiratory failure ... ORPHA:95455
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Respiratory tract infection, ... OMIM:180849
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Hyperoxaluria, Primary, Type I
Cutis marmorata, Acrocyanosis OMIM:259900
Schinzel-Giedion Syndrome
Respiratory distress, Pulmonary hypoplasia, Recurrent pneumonia ORPHA:798
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma ORPHA:3206
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Aicardi-Goutières Syndrome
Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice ORPHA:51
Primary Hyperoxaluria
Cutis marmorata, Acrocyanosis ORPHA:416
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Pulmonary arterial hypertension ORPHA:51608
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Respiratory distress ORPHA:3404
Gitelman Syndrome
Respiratory distress ORPHA:358
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Bruising susceptibility, Poor wound healing, Fragile skin, Ecchymosi... ORPHA:287
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Pulmonary artery atresia ORPHA:216694
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis ORPHA:2255
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Respiratory distress, Acute infectious pneumonia ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:480880
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
8Q24.3 Microdeletion Syndrome
Respiratory distress, Abnormal lung lobation ORPHA:508488
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respirat... ORPHA:64
Aspiration pneumonia, Respiratory distress, Abnormal subcutaneous fat tissue distribution ORPHA:79318


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 Tnrc6c

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 Tnrc6c.

No publications found that use IMPC mice or data for Tnrc6c.

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MGI Allele Allele Type Produced
Tnrc6cem1(IMPC)J Indel Mice
Tnrc6ctm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tnrc6ctm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tnrc6ctm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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