Gene Summary

Name:
trinucleotide repeat containing 6C
Synonyms:
9930033H14Rik

IMPC Data Collections

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.

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Viewing: all phenotypes
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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.

Phenotype associated images not available

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
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Laryngotracheoesophageal Cleft
Dyspnea, Cough, Laryngeal cleft, Recurrent respiratory infections, Laryngomalacia, Neonatal respi... ORPHA:2004
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distre... ORPHA:1302
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Recurrent upper respiratory tr... ORPHA:60032
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Succinic Acidemia
Respiratory distress OMIM:600335
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Dyspnea, Pulmonary capillary hemangiomatosis, Elevated pulmonary arte... ORPHA:199241
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Dyspnea, Respiratory distress, Parenchymal consolidation, Pleural effusion, Coug... ORPHA:36238
Chronic Beryllium Disease
Abnormality on pulmonary function testing, Ground-glass opacification, Dyspnea, Pulmonary fibrosi... ORPHA:133
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Exertional dyspn... ORPHA:2032
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Abnormal pulmonary arter... ORPHA:2257
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis OMIM:615993
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emp... ORPHA:60033
Gaucher Disease Type 2
Cough, Recurrent respiratory infections, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Breath-Holding Spells
Cyanosis OMIM:607578
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Meconium Aspiration Syndrome
Wheezing, Abnormal pulmonary thoracic imaging finding, Respiratory distress, Atelectasis, Neonata... ORPHA:70588
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Monosodium Glutamate Sensitivity
Dyspnea, Flushing OMIM:231630
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia ORPHA:238459
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Laryngotracheal stenosis, Upper airway obstruction, Neoplas... ORPHA:142
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... ORPHA:723
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Abnormal pulmonary interstitial morphology, Bronchomalacia,... OMIM:617180
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... ORPHA:98913
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Acquired Methemoglobinemia
Cyanosis, Dyspnea, Hypoxemia, Respiratory distress ORPHA:464453
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Hypoadrenocorticism, Familial
Apnea, Cyanosis OMIM:240200
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Respiratory distress OMIM:618006
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress, Short nose OMIM:615042
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Dyspnea, Cough, Hemothorax, Epistaxis, Pleural empyema, Hemoptysis, Pulmona... ORPHA:2038
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pulmonary fibrosis, Coug... OMIM:614742
Buerger Disease
Acrocyanosis ORPHA:36258
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Choanal atresia, Wide nasal bridge, Respiratory failure, Recurrent... ORPHA:2759
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Nipah Virus Disease
Recurrent pharyngitis, Cough, Respiratory distress ORPHA:99825
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Congenital Tracheal Stenosis
Abnormal lung lobation, Wheezing, Dyspnea, Respiratory distress, Abnormal lung morphology, Anomal... ORPHA:141127
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Malaria
Respiratory distress ORPHA:673
Odontochondrodysplasia
Short nose, Death in infancy, Respiratory distress, Depressed nasal bridge ORPHA:166272
Solar Urticaria
Wheezing, Dyspnea, Angioedema, Urticaria, Dermatographic urticaria ORPHA:97230
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Abnormal pleu... ORPHA:210136
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Congenital Myasthenic Syndrome
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Ap... ORPHA:98914
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress, Abnormal respiratory system morphology, Inspiratory stridor, Phary... ORPHA:100050
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Goodpasture Syndrome
Ground-glass opacification, Restrictive ventilatory defect, Pulmonary hemorrhage, Reticular patte... OMIM:233450
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Recurrent respiratory infectio... OMIM:211530
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge ORPHA:261304
Agnathia-Otocephaly Complex
Hypoplasia of the epiglottis, Respiratory distress, Tracheomalacia, Laryngeal hypoplasia OMIM:202650
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Respirator... ORPHA:555874
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Yellow Nail Syndrome
Dyspnea, Generalized abnormality of skin, Bronchiectasis, Pleuritis, Cough, Rhinitis, Neoplasm of... ORPHA:662
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Narrow nasal bridge OMIM:268320
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Purpura, Abnormal pleura morphology, Cough, Nasal polyposis, Respiratory insufficie... ORPHA:183
Cryptosporidiosis
Respiratory tract infection, Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Tetrasomy 5P
Respiratory distress, Short nose, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary arterial hyp... ORPHA:3309
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea, Cyanosis OMIM:261680
Holocarboxylase Synthetase Deficiency
Desquamation of skin soon after birth, Tachypnea, Respiratory distress ORPHA:79242
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Neonatal death, Pulmonary hypoplasia, Depressed nasal bridge OMIM:231680
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Hemoptysis, Pulmonary arterial hyperte... ORPHA:99106
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress, Depressed nasal bridge ORPHA:226313
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ie
Depressed nasal bridge, Telangiectasia, Respiratory distress OMIM:608799
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Esophageal Atresia
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... ORPHA:1199
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy, Respiratory distress OMIM:184260
Lymphatic Malformation 7
Pulmonary edema, Respiratory distress OMIM:617300
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Depressed nasal bridge ORPHA:3426
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Wide nasal bridge, Depressed nasal bridge OMIM:617102
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Sepsis In Premature Infants
Abnormal mucociliary clearance, Dyspnea, Purpura, Decreased pulmonary function, Jaundice, Petechi... ORPHA:90051
Chiari Malformation Type Ii
Inspiratory stridor, Cyanosis OMIM:207950
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Pulmonary Hypertension, Primary, 1
Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibrosis, Increased pul... OMIM:178600
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Wide nose, Wide nasal bridge ORPHA:89844
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy, Recurrent respiratory ... OMIM:301790
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypoplasia of the nasal bo... ORPHA:1134
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Prominent nose OMIM:614407
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Stt3B-Cdg
Respiratory distress ORPHA:370924
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Depressed nasal bridge ORPHA:284417
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia... OMIM:217980
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Tetanus
Tachypnea, Respiratory distress, Laryngospasm ORPHA:3299
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Arnold-Chiari Malformation Type Ii
Apnea, Cyanosis, Inspiratory stridor, Pneumonia ORPHA:1136
Boomerang Dysplasia
Hypoplastic nasal septum, Neonatal death, Underdeveloped nasal alae, Wide nasal bridge OMIM:112310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, Depressed nasa... ORPHA:3015
Diaphanospondylodysostosis
Respiratory distress, Short nose, Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia... OMIM:608022
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Short nose, Respiratory distress, Narrow nasal bridge ORPHA:544503
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Abnormal pattern of respiration, Tachypnea, Cyanosis ORPHA:31826
Gaucher Disease, Perinatal Lethal
Apnea, Respiratory distress, Short nose, Purpura, Desquamation of skin soon after birth, Petechia... OMIM:608013
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Urticaria, Erythema ORPHA:343
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Wide nasal bridge, Death in childhoo... OMIM:617303
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Moebius Syndrome
Abnormal nasopharynx morphology, Respiratory distress, Depressed nasal bridge OMIM:157900
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Respiratory distress, Respiratory failure requiring assisted ventila... ORPHA:308552
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Short nose, Recurrent respiratory infections, Respiratory distress ORPHA:329178
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Pulmonary arteriovenous malformation, S... OMIM:610655
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Wide nasal bridge ORPHA:3304
Renal Dysplasia-Limb Defects Syndrome
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, De... OMIM:266910
Brain-Lung-Thyroid Syndrome
Respiratory distress, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Neonatal re... ORPHA:209905
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Tachypnea ORPHA:26793
Atrioventricular Septal Defect 3
Pulmonary arterial hypertension, Cyanosis OMIM:600309
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Exertional dyspnea, Pulmonary arterial hypertens... OMIM:187300
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Depressed nasal bridge OMIM:156550
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Short nose, Respiratory distress, Wide nasal bridge, Anteverted nares, Recurrent respiratory infe... OMIM:619383
Hughes-Stovin Syndrome
Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary embolism, Pulmonary artery aneurysm, Hemoptys... ORPHA:228116
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, R... ORPHA:333
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Respiratory distress ORPHA:990
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Jaundice, Respiratory distress OMIM:274150
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Generalized abnormality of skin, Respiratory insufficiency, Respiratory distress ORPHA:367
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Purpura OMIM:225750
Poems Syndrome
Acrocyanosis, Restrictive ventilatory defect, Pleural effusion, Respiratory insufficiency due to ... ORPHA:2905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Respiratory distress, Bulbous nose, Respiratory insufficiency, Respiratory failure OMIM:608836
Pfeiffer Syndrome Type 2
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93259
Microlissencephaly-Micromelia Syndrome
Short nose, Respiratory distress ORPHA:50810
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Dravet Syndrome
Cyanotic episode ORPHA:33069
Nocardiosis
Abnormal sputum, Dyspnea, Respiratory distress, Pleuritis, Pleural effusion, Emphysema, Nonproduc... ORPHA:31204
Bacterial Toxic-Shock Syndrome
Respiratory tract infection, Respiratory distress, Pneumonia, Pharyngitis, Sinusitis, Tachypnea, ... ORPHA:36234
Dermatomyositis
Acrocyanosis, Pulmonary fibrosis, Respiratory insufficiency, Telangiectasia of the skin, Erythema... ORPHA:221
Scimitar Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Respiratory... ORPHA:185
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa, Choanal atresia, Anteverted nares, Depressed nasal... OMIM:123790
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge, Broad nasal tip, Anteverted n... ORPHA:438216
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Choanal atresia, Respiratory distress, Anteverted nares OMIM:610536
Pfeiffer Syndrome Type 3
Short nose, Respiratory distress, Choanal atresia, Tracheomalacia, Laryngomalacia, Depressed nasa... ORPHA:93260
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Exertional dyspnea OMIM:220110
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Respiratory distress, Abnormal pleura morphology, Cough, Recurren... ORPHA:537
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Respiratory distress OMIM:619272
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Bulbous nose, Choanal atresia, Wide nasal bridge, Prominent nose, Recurrent... OMIM:300968
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory failure, Respiratory distress, Central hypoventilation ORPHA:70474
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia, Recurrent infections due to aspiration OMIM:223900
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Exertional dyspnea, Re... ORPHA:99125
Cocaine Intoxication
Wheezing, Respiratory distress, Cough, Diffuse alveolar hemorrhage, Pulmonary edema, Hemoptysis, ... ORPHA:90068
Arterial Tortuosity Syndrome
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Short nose,... ORPHA:3342
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Pulmonary artery hypoplasia ORPHA:2326
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Tarp Syndrome
Apnea, Wide nasal bridge, Pulmonary hypoplasia, Cyanosis, Anteverted nares ORPHA:2886
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Respiratory distress, Erythema, Abnormal pulmonary interstitial morphology, Fragile skin, Neonata... OMIM:614748
Campomelic Dysplasia
Apnea, Tracheobronchomalacia, Respiratory distress, Depressed nasal bridge OMIM:114290
Idiopathic Hypereosinophilic Syndrome
Dyspnea, Respiratory distress, Pulmonary infiltrates, Pulmonary fibrosis, Pleural effusion, Vascu... ORPHA:3260
Unilateral Polymicrogyria
Apnea, Cyanosis, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cardiorespiratory arrest, Anteverted nares, Recurrent upper respiratory tract in... ORPHA:293987
Cryptococcosis
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodular pattern on pulmonary HRCT ORPHA:1546
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Pulmo... ORPHA:3384
Biotinidase Deficiency
Laryngeal stridor, Apnea, Respiratory distress, Hyperventilation ORPHA:79241
Histiocytoid Cardiomyopathy
Cough, Laryngeal web, Pulmonary edema, Tachypnea, Cyanosis ORPHA:137675
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Pulmonary arte... OMIM:600376
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Respiratory distress ORPHA:2519
Infantile Krabbe Disease
Respiratory failure, Respiratory distress, Laryngomalacia ORPHA:206436
Q Fever
Respiratory distress, Purpura, Pleural effusion, Cough, Pneumonia, Abnormal pulmonary interstitia... ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hyp... OMIM:616749
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Choanal atresia, Respiratory distress, Anteverted nares, Depressed nasal bridge ORPHA:1555
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Anteverted nares, Short nose, Tracheomalaci... ORPHA:536467
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Diamond-Blackfan Anemia 10
Choanal atresia, Respiratory distress OMIM:613309
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Underdeveloped nasal alae, Short nose, Hypohidrotic ectodermal dysplasia, R... OMIM:305100
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Abnormal pattern of respiration, Prominent nasal bridge, Anteverted na... ORPHA:2896
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Familial Dysautonomia
Acrocyanosis, Abnormal pleura morphology, Recurrent respiratory infections ORPHA:1764
Auriculocondylar Syndrome
Obstructive sleep apnea, Respiratory distress, Snoring ORPHA:137888
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Pulmonary edema, Abnormal pat... ORPHA:79139
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy, Partial anomalous pulmonary venous return OMIM:617478
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short nose, Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction, R... ORPHA:505248
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Respiratory distress OMIM:306955
Spondyloepiphyseal Dysplasia Congenita
Restrictive ventilatory defect, Respiratory distress OMIM:183900
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Tracheoesophageal fistula, Respiratory distress ORPHA:210122
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Interstitial pneumonitis, Pneumonia, Urticaria, Recurrent respiratory infec... ORPHA:37042
Alternating Hemiplegia Of Childhood
Apnea, Flushing, Respiratory distress, Aspiration ORPHA:2131
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Severe Generalized Junctional Epidermolysis Bullosa
Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Fragile skin, Respiratory failure, ... ORPHA:79404
Ramos-Arroyo Syndrome
Anteverted nares, Respiratory distress, Depressed nasal bridge ORPHA:1051
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short nose, Prominent nose, Broad nasal tip, Anteverted nares, Recurrent re... ORPHA:177907
Coccidioidomycosis
Respiratory distress, Parenchymal consolidation, Cough, Exudative pleural effusion, Pneumonia, Pl... ORPHA:228123
Osteoglophonic Dysplasia
Short nose, Abnormal nasopharynx morphology, Respiratory distress, Anteverted nares, Depressed na... OMIM:166250
Eisenmenger Syndrome
Wheezing, Respiratory distress, Exertional dyspnea, Increased pulmonary vascular resistance, Aort... ORPHA:97214
Congenital Disorder Of Deglycosylation
Recurrent respiratory infections, Central sleep apnea, Anteverted nares, Respiratory distress OMIM:615273
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Jaundice, Pulmonary embolism, Respiratory distress ORPHA:79282
Shwachman-Diamond Syndrome 1
Neonatal respiratory distress, Respiratory distress OMIM:260400
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Leptospirosis
Pulmonary hemorrhage, Respiratory distress, Pleural effusion, Cough, Jaundice, Hemoptysis, Pharyn... ORPHA:509
Tuberous Sclerosis Complex
Respiratory tract infection, Generalized abnormality of skin, Respiratory distress, Respiratory f... ORPHA:805
Kasabach-Merritt Syndrome
Hypopnea, Petechiae, Respiratory distress, Purpura ORPHA:2330
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Cleidocranial Dysplasia
Respiratory distress, Hypoplastic frontal sinuses, Neonatal respiratory distress, Absent frontal ... OMIM:119600
Adnp Syndrome
Recurrent upper respiratory tract infections, Depressed nasal bridge, Respiratory distress, Aspir... ORPHA:404448
Listeriosis
Jaundice, Respiratory failure, Pneumonia, Respiratory distress ORPHA:533
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Recurrent respiratory infections, Respiratory distress ORPHA:17
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Generalized abnormality of skin, Respiratory distress, Cough, Respiratory failure requiring assis... ORPHA:95455
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Erythema, Wide nasal bridge, Respiratory failure, Wide nose ORPHA:2556
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Premature skin wrinkling, Exertional dyspnea, Prominent superfic... ORPHA:740
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Ear-Patella-Short Stature Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2554
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bulbous nose, Wide nasal bridge, Nasal flaring, Asthma, Broad nasal tip, Depressed nasal bridge ORPHA:466943
Arboleda-Tham Syndrome
Neonatal respiratory distress, Prominent nasal bridge, Respiratory distress, Broad nasal tip OMIM:616268
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Depressed nasal bridge OMIM:617088
Meier-Gorlin Syndrome 1
Respiratory distress OMIM:224690
Schinzel-Giedion Syndrome
Recurrent pneumonia, Respiratory distress, Short nose, Laryngomalacia, Pulmonary hypoplasia, Hypo... ORPHA:798
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia, Respiratory distress, Underdeveloped nasal alae, Wide nasal bridge ORPHA:83617
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Cutis marmorata ORPHA:51
Stüve-Wiedemann Syndrome
Apnea, Asthma, Respiratory distress ORPHA:3206
Classical Ehlers-Danlos Syndrome
Acrocyanosis, Prematurely aged appearance, Poor wound healing, Fragile skin, Bruising susceptibil... ORPHA:287
Ulbright-Hodes Syndrome
Respiratory distress, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, Depressed nasal br... ORPHA:3404
Coffin-Lowry Syndrome
Acrocyanosis, Anteverted nares, Cutis marmorata, Wide nose OMIM:303600
Doors Syndrome
Respiratory distress, Bulbous nose, Wide nasal bridge, Aspiration pneumonia, Broad nasal tip, Ant... ORPHA:79500
Gitelman Syndrome
Respiratory distress ORPHA:358
Generalized Arterial Calcification Of Infancy
Pulmonary arterial hypertension, Cyanosis, Respiratory distress ORPHA:51608
Plague
Acute infectious pneumonia, Respiratory distress, Pharyngitis, Hemoptysis ORPHA:707
Rubinstein-Taybi Syndrome 1
Respiratory distress, Recurrent upper respiratory tract infections, Laryngomalacia, Wide nasal br... OMIM:180849
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Choanal atresia, Wi... ORPHA:480880
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis ORPHA:2255
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
8Q24.3 Microdeletion Syndrome
Respiratory distress, Wide nasal bridge, Abnormal cricoid cartilage morphology, Broad nasal tip, ... ORPHA:508488
Pmm2-Cdg
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia, Promin... ORPHA:79318
Alström Syndrome
Restrictive ventilatory defect, Chronic pulmonary obstruction, Respiratory distress, Recurrent up... ORPHA:64

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 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.

Order Mouse and ES Cells

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

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