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Gene: Cc2d1a MGI:2384831

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

coiled-coil and C2 domain containing 1A

Synonyms:

Tape, Freud-1

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 Cc2d1a 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 Cc2d1a (1 diseases)
Human diseases predicted to be associated with Cc2d1a (399 diseases)

The table below shows human diseases associated to Cc2d1a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Recessive 3			OMIM:608443

The table below shows human diseases predicted to be associated to Cc2d1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy, Apnea	OMIM:610992
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Succinic Acidemia	Respiratory distress	OMIM:600335
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Polymicrogyria	ORPHA:171703
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili...	ORPHA:922
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Abnormal mitochondrial shape, Respiratory insufficiency	OMIM:610773
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Breath-Holding Spells	Cyanosis	OMIM:607578
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red...	OMIM:610913
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura...	ORPHA:50251
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy, Failure to thrive, Polymicrogyria	OMIM:616974
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight	OMIM:300580
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Cyanosis, Hypoxemia	ORPHA:464453
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Dystonia 31	Abnormal posturing	OMIM:619565
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Failure to thrive	ORPHA:26792
Slc35A1-Cdg	Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator...	ORPHA:79127
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil...	OMIM:606763
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	OMIM:237310
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Malaria	Respiratory distress	ORPHA:673
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Cryptorchidism, Death in childhood	OMIM:615597
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness	OMIM:613561
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Buerger Disease	Acrocyanosis	ORPHA:36258
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis	ORPHA:444013
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, Abnormal posturing, Failure...	OMIM:614857
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough	ORPHA:142
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Tricuspid Atresia	Cyanosis	ORPHA:1209
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Large for gestational age	ORPHA:45452
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Diaphanospondylodysostosis	Respiratory distress, Myelomeningocele	ORPHA:66637
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Neon...	OMIM:300219
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age	OMIM:616733
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Odontochondrodysplasia	Respiratory distress, Death in infancy, Patent ductus arteriosus	ORPHA:166272
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Stt3B-Cdg	Respiratory distress, Failure to thrive	ORPHA:370924
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive	ORPHA:261304
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Degeneration of anterior horn cells, Abnormal anterior horn cell morphology...	ORPHA:1145
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Patent ductus arteriosus, Failure to thrive	OMIM:608799
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ...	ORPHA:90051
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:98914
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive	OMIM:618201
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Failure to thrive	ORPHA:79312
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Congenital Fibrinogen Deficiency	Decreased testicular size, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Weight loss	ORPHA:79242
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Failure to thrive, Respiratory insufficiency	ORPHA:367
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Acrocyanosis, Pneumonia	ORPHA:1867
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Palmoplantar cutis laxa, Neonatal death...	OMIM:616482
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Tachypnea, Cyanosis	ORPHA:860
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:3309
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Failure to thrive	ORPHA:927
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, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Carnitine Deficiency, Systemic Primary	Respiratory distress, Failure to thrive	OMIM:212140
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Failure to thrive	ORPHA:544503
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Failure to thrive, Lissencephaly	ORPHA:50810
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Mitochondrial swelling	OMIM:615595
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Hepatic periportal necrosis, Pachygyria, Respiratory distress	OMIM:231680
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2707
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive	OMIM:619272
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus	ORPHA:98805
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Agnathia-Otocephaly Complex	Respiratory distress, Holoprosencephaly, Tracheomalacia	OMIM:202650
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Double Outlet Right Ventricle	Tachypnea, Cyanosis	ORPHA:3426
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Tachy...	ORPHA:26793
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Myotonic Dystrophy 1	Respiratory distress, Testicular atrophy	OMIM:160900
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cryptorchidism, Cyanosis	ORPHA:3304
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Patent ductus arteriosus, Recurrent pneumonia, F...	OMIM:607143
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death, Petechiae, Purpura	OMIM:608013
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Moebius Syndrome	Respiratory distress, Decreased testicular size	OMIM:157900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Cyanosis, Abnormal pattern of respiration	ORPHA:31826
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar...	ORPHA:363705
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Failure to thrive	OMIM:251000
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Urticaria, Cough, Acrocyanosis, Pu...	ORPHA:183
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Failure to thrive	ORPHA:329178
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Miscarriage, Nail bed te...	OMIM:187300
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res...	ORPHA:1199
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Failure to thrive, Cachexia	ORPHA:206436
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a...	OMIM:260400
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Holoprosencephaly	ORPHA:990
Diaphanospondylodysostosis	Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Capillary Malformation-Arteriovenous Malformation	Chylothorax, Hydrocephalus, Epistaxis, Cerebral arteriovenous malformation	ORPHA:137667
Double Outlet Left Ventricle	Cryptorchidism, Tachypnea, Cyanosis	ORPHA:3427
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Patent ductus arteriosus, Hydrocephalus	OMIM:612863
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Meckel Syndrome 14	Cyanosis, Pneumothorax, Cardiorespiratory arrest	OMIM:619879
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism	ORPHA:2519
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Patent ductus arteriosus, Recurrent pneumonia, Death in childhood	OMIM:617303
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure	OMIM:252010
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Kallmann Syndrome-Heart Disease Syndrome	Bilateral cryptorchidism, Cyanosis, Decreased testicular size	ORPHA:2326
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Achondroplasia	Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction	OMIM:100800
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia	ORPHA:93259
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Patent ductus arteriosus, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Failure to thrive in infancy	OMIM:612852
Ramos-Arroyo Syndrome	Respiratory distress, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight	ORPHA:1051
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Failure to thrive	OMIM:251110
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Hydrocele testis	ORPHA:79330
Arterial Tortuosity Syndrome	Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores...	ORPHA:3342
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Periventricular heterotopia	OMIM:618733
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Farber Disease	Respiratory distress, Failure to thrive, Respiratory insufficiency	ORPHA:333
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Aortic Arch Interruption	Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea	ORPHA:2299
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Tarp Syndrome	Cryptorchidism, Cyanosis, Apnea	ORPHA:2886
Biotinidase Deficiency	Respiratory distress, Myelopathy, Apnea, Hyperventilation	ORPHA:79241
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect	OMIM:183900
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Patent ductus arteriosus, Abnormal cortical gyration	OMIM:300968
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Japanese Encephalitis	Respiratory distress, Paucity of anterior horn motor neurons, Respiratory paralysis, Abnormal pat...	ORPHA:79139
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hydrocephalus	ORPHA:1555
Unilateral Polymicrogyria	Abnormal posturing, Perisylvian polymicrogyria, Apnea, Epistaxis	ORPHA:268943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Patent ductus arteriosus, Hydrocephalus, Stridor, Pulmonary arterial hypert...	ORPHA:505248
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
Mgat2-Cdg	Respiratory distress, Patent ductus arteriosus, Failure to thrive	ORPHA:79329
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion	ORPHA:1546
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Failure to thrive	OMIM:251100
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Respiratory distress, Tracheomalacia	ORPHA:93260
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We...	ORPHA:31204
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Urticaria...	ORPHA:3260
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Patent ductus arteriosus, Respiratory distress	OMIM:618188
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Histiocytoid Cardiomyopathy	Tachypnea, Cyanosis, Cough	ORPHA:137675
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Vici Syndrome	Gray matter heterotopia, Abnormal posturing, Failure to thrive	OMIM:242840
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Q Fever	Respiratory distress, Pneumonia, Cough, Pleural effusion, Purpura	ORPHA:781
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Hydrocephalus, Pulmonary arterial hypertension, Failure...	ORPHA:79282
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Patent ductus arteriosus, Failure to thrive, Apnea	ORPHA:17
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Erythema, Cough	ORPHA:537
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive	OMIM:224690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis	ORPHA:37042
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Decreased sensitivity to hypoxemia	OMIM:223900
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Diamond-Blackfan Anemia 10	Respiratory distress, Patent ductus arteriosus	OMIM:613309
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Hydrocephalus	OMIM:123790
Parkes Weber Syndrome	Myelopathy, Cerebral arteriovenous malformation	ORPHA:90307
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d...	OMIM:114290
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:210122
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Patent ductus arteriosus, Obesity	ORPHA:177907
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Failure to thrive, Hepatocellular necrosis	OMIM:256810
Pitt-Hopkins Syndrome	Cryptorchidism, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation	ORPHA:2896
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation	ORPHA:255210
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido...	ORPHA:79404
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest	ORPHA:293987
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2554
Scimitar Syndrome	Respiratory distress, Patent ductus arteriosus, Pneumothorax, Cough, Pulmonary arterial hypertension	ORPHA:185
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Aqueductal stenosis, Patent ductus arteriosus, Myelomeningocele, Hydrocepha...	OMIM:306955
Adnp Syndrome	Respiratory distress, Aspiration, Truncal obesity	ORPHA:404448
Coccidioidomycosis	Respiratory distress, Pneumonia, Hydrocephalus, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation	OMIM:175050
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper...	ORPHA:740
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Failure to thrive	ORPHA:2556
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Decreased body weight	OMIM:615273
Rubinstein-Taybi Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Spina bifida, Patent ductus a...	OMIM:180849
Osteoglophonic Dysplasia	Respiratory distress, Failure to thrive	OMIM:166250
Juvenile Polyposis Syndrome	Spontaneous, recurrent epistaxis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary arter...	ORPHA:2929
Arboleda-Tham Syndrome	Respiratory distress, Patent ductus arteriosus, Recurrent aspiration pneumonia, Neonatal respirat...	OMIM:616268
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Schinzel-Giedion Syndrome	Respiratory distress, Neural tube defect, Recurrent pneumonia, Failure to thrive in infancy	ORPHA:798
Phace Syndrome	Cerebral arteriovenous malformation	ORPHA:42775
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Obesity	ORPHA:466943
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Patent ductus arteriosus, Failure to thrive, Small for gestational age	ORPHA:2255
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Generalized abnormality of skin	ORPHA:805
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Cerebral arteriovenous malformation	OMIM:150230
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Truncus Arteriosus	Tachypnea, Cyanosis	ORPHA:3384
8Q24.3 Microdeletion Syndrome	Respiratory distress, Patent ductus arteriosus, Spina bifida occulta, Small for gestational age	ORPHA:508488
Gitelman Syndrome	Respiratory distress, Failure to thrive	ORPHA:358
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit...	ORPHA:544482
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Leptospirosis	Respiratory distress, Pleural effusion, Jaundice, Cough	ORPHA:509
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Failure to thrive	ORPHA:83617
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Doors Syndrome	Respiratory distress, Polymicrogyria, Spina bifida occulta, Aspiration pneumonia	ORPHA:79500
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Patent ductus arteriosus	OMIM:617088
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Patent ductus arteriosus, Abnormal cortical gyration	ORPHA:480880
Ulbright-Hodes Syndrome	Respiratory distress, Cryptorchidism, Respiratory failure, Pneumothorax	ORPHA:3404
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Failure to thrive, Recurrent pneumonia	ORPHA:99646
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Testicular fibrosis, Chronic pulmonary obstruction, ...	ORPHA:64
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Decreased testicular size, A...	ORPHA:79318
Intellectual Developmental Disorder, Autosomal Recessive 3		OMIM:608443

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 Cc2d1a

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 Cc2d1a.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability.	Biological psychiatry (December 2018)	Cc2d1a^{tm1c(KOMP)Wtsi} Cc2d1a^{tm1a(KOMP)Wtsi}	30732858
Loss of the Intellectual Disability and Autism Gene Cc2d1a and Its Homolog Cc2d1b Differentially Affect Spatial Memory, Anxiety, and Hyperactivity.	Frontiers in genetics (March 2018)	Cc2d1a^{tm1a(KOMP)Wtsi}	PMC5840150
Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior.	The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2017)	Cc2d1a^{tm1c(KOMP)Wtsi} Cc2d1a^{tm1a(KOMP)Wtsi}	PMC5722640
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.	Cerebral cortex (New York, N.Y. : 1991) (February 2017)	Cc2d1a^{tm1c(KOMP)Wtsi} Cc2d1a^{tm1a(KOMP)Wtsi}	26826102
TBK1-associated protein in endolysosomes (TAPE)/CC2D1A is a key regulator linking RIG-I-like receptors to antiviral immunity.	The Journal of biological chemistry (July 2012)	Cc2d1a^{tm1a(KOMP)Wtsi}	PMC3442552

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cc2d1a^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cc2d1a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cc2d1a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cc2d1a^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	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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