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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Polymicrogyria ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 3
OMIM:608443

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure, Tachypnea, Cough, Respiratory distress OMIM:263000
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss ORPHA:141152
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Bronchial breath sound,... ORPHA:1302
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiect... ORPHA:922
Succinic Acidemia
Respiratory distress OMIM:600335
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Cyanosis, Neonatal respiratory distress, Tachypnea, Respiratory failure, Dyspnea, Pulmonar... OMIM:265120
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress OMIM:267450
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Respiratory distress ORPHA:171703
Asbestos Intoxication
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Late inspiratory crackl... ORPHA:2302
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Pneumonia, Hypoxemia, Airway obstruction, Reduced fo... ORPHA:1303
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Cough, Dyspnea, Decreased DLCO OMIM:610910
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Apnea, Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Neonatal re... OMIM:610921
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:254210
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Respiratory distress OMIM:615595
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency, Abnormal mitochondrial shape OMIM:610773
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Breath-Holding Spells
Cyanosis OMIM:607578
Perching Syndrome
Respiratory distress OMIM:617055
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Atelectasis, Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis OMIM:619466
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Monosodium Glutamate Sensitivity
Flushing, Dyspnea OMIM:231630
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Intersti... OMIM:610913
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Pleural Mesothelioma
Abnormal respiratory system physiology, Pleural effusion, Cough, Dyspnea, Respiratory distress, W... ORPHA:50251
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction ORPHA:100057
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Decreased body weight, Respiratory distress OMIM:300580
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Bardet-Biedl Syndrome 16
Obesity, Respiratory distress OMIM:615993
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Choanal Atresia
Cyanosis, Tracheomalacia, Abnormal nasal mucus secretion, Upper airway obstruction, Respiratory d... ORPHA:137914
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Failure to thrive, Respiratory distress, Res... OMIM:614399
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Respiratory distress ORPHA:238329
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Failure to thrive, Respiratory distress OMIM:245590
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Acquired Methemoglobinemia
Cyanosis, Hypoxemia, Respiratory distress, Dyspnea ORPHA:464453
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effus... ORPHA:79126
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, Pn... ORPHA:2257
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Restrictive ventilatory defect, Respiratory failure, Exertional dyspnea, Orthopnea, Red... ORPHA:98913
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Failure to thrive in infancy, Respiratory failure, Respiratory insufficiency... ORPHA:254875
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Crackles, Cough, Dyspnea, Decreased DLCO ORPHA:747
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Dystonia 31
Abnormal posturing OMIM:619565
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Acute Lung Injury
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory distress ORPHA:178320
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress ORPHA:26792
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Dyspnea OMIM:613490
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Respiratory distress OMIM:300934
Slc35A1-Cdg
Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms... OMIM:606763
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Hypoxemia... ORPHA:79127
Pulmonary Capillary Hemangiomatosis
Cyanosis, Hypoxemia, Pleural effusion, Dyspnea, Exertional dyspnea, Elevated pulmonary artery pre... ORPHA:199241
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Respiratory distress, Death in childhood OMIM:615597
Thyroid Lymphoma
Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory distress, Ventilator dependence w... ORPHA:254864
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Malaria
Respiratory distress ORPHA:673
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress OMIM:237310
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, Asthma, Crackles, Tac... OMIM:610978
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Stridor, Upper airway obstruction, Respiratory distress, Weight loss ORPHA:142
Buerger Disease
Acrocyanosis ORPHA:36258
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Congenital Tracheomalacia
Cyanosis, Emphysema, Decreased peak expiratory flow, Tracheomalacia, Pneumonia, Tracheobronchomal... ORPHA:95430
Tricuspid Atresia
Cyanosis ORPHA:1209
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Tachypnea, Respiratory distress ORPHA:45452
Pulmonary Arteriovenous Malformation
Cyanosis, Hypoxemia, Cough, Dyspnea, Pulmonary arterial hypertension, Pleural empyema, Hemothorax... ORPHA:2038
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Respiratory insufficiency OMIM:601612
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Miscarriage, Pl... ORPHA:454836
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age OMIM:616733
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Motor Neuropathy, Peripheral, With Dysautonomia
Cyanosis OMIM:252320
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Failure to thrive, Respiratory distress OMIM:618426
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss, Abnormal posturing, Cough ORPHA:216866
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Respiratory distress, Atelectasis OMIM:300219
Congenital Myasthenic Syndrome
Cyanosis, Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, I... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Cyanosis, Central sleep apnea, Episodic respiratory distress, Stridor, Obstructive sleep apnea, I... ORPHA:98914
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Tracheomalacia OMIM:245650
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress ORPHA:596
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Diaphanospondylodysostosis
Myelomeningocele, Respiratory distress ORPHA:66637
Stt3B-Cdg
Failure to thrive, Respiratory distress ORPHA:370924
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Respiratory insufficiency, Degeneration of anterior horn ... ORPHA:1145
Lissencephaly Syndrome, Norman-Roberts Type
4-layered lissencephaly, Abnormality of neuronal migration, Respiratory distress, Microlissencephaly ORPHA:89844
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Respiratory distress, Dyspnea ORPHA:86812
Odontochondrodysplasia
Death in infancy, Patent ductus arteriosus, Respiratory distress ORPHA:166272
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Respiratory distress ORPHA:261304
Encephalopathy, Ethylmalonic
Death in infancy, Petechiae, Acrocyanosis OMIM:602473
Pulmonary Alveolar Microlithiasis
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on ... ORPHA:60025
Congenital Disorder Of Glycosylation, Type Ie
Failure to thrive, Patent ductus arteriosus, Respiratory distress OMIM:608799
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Abnormal posturing OMIM:614857
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Folinic Acid-Responsive Seizures
Apnea, Respiratory distress ORPHA:79097
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Dyspnea, Stridor, Respiratory distress, Respiratory insufficiency OMIM:211530
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory insufficiency due to muscle weakness, Respiratory distress ORPHA:1143
Triosephosphate Isomerase Deficiency
Death in adolescence, Respiratory failure, Respiratory insufficiency, Jaundice, Respiratory insuf... OMIM:615512
Sepsis In Premature Infants
Cyanosis, Abnormal respiratory system physiology, Petechiae, Jaundice, Dyspnea, Abnormal mucocili... ORPHA:90051
Complete Atrioventricular Septal Defect
Cyanosis, Recurrent pneumonia, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary... ORPHA:1329
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Huntington Disease-Like 1
Weight loss, Abnormal posturing ORPHA:157941
Surfactant Metabolism Dysfunction, Pulmonary, 5
Exertional dyspnea, Respiratory insufficiency, Dyspnea OMIM:614370
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Isolated Right Ventricular Hypoplasia
Cyanosis, Hypoxemia, Dyspnea ORPHA:439
Congenital Tricuspid Valve Dysplasia
Cyanosis, Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Tac... ORPHA:555874
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Holocarboxylase Synthetase Deficiency
Tachypnea, Weight loss, Respiratory distress ORPHA:79242
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Respiratory distress OMIM:618201
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress ORPHA:79312
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Death in infancy, Episodic hypoventilation, Head titubation OMIM:301790
Tularemia
Pleural effusion, Pneumonia, Cough, Respiratory distress ORPHA:3392
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Respiratory distress ORPHA:226313
Waardenburg Syndrome Type 3
Atelectasis, Acrocyanosis, Tracheomalacia ORPHA:896
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Pneumonia, Airway obstruction, Increased pulmonary vascular resistance, Dyspnea, Pulmon... ORPHA:99103
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pachygyria, Hepatic periportal necrosis, Respiratory distress OMIM:231680
Nasolacrimal Duct Cyst
Abnormal breath sound, Paroxysmal dyspnea, Episodic respiratory distress, Stridor, Intercostal re... ORPHA:141083
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Failure to thrive, Abnormal neuron branching, Respiratory distress ORPHA:367
Microlissencephaly-Micromelia Syndrome
Lissencephaly, Failure to thrive, Respiratory distress ORPHA:50810
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency, Sudden episodic apnea ORPHA:159
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia ORPHA:860
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Abnormal respiratory system physiology, Airway obstruction, Tachypnea, Dyspnea, Pulmona... ORPHA:99106
Tetrasomy 5P
Cyanosis, Pulmonary arterial hypertension, Respiratory distress ORPHA:3309
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Failure to thrive, Respiratory distress ORPHA:544503
Chitayat Syndrome
Tracheomalacia, Respiratory distress OMIM:617180
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress ORPHA:927
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... ORPHA:99104
Oculocerebrofacial Syndrome, Kaufman Type
Failure to thrive, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Episodic tachypnea, Dyspnea, Respiratory distress, Intermittent hyper... ORPHA:348
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Respiratory distress OMIM:619272
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Hereditary Angioedema Type 1
Dermatographic urticaria, Urticaria, Dyspnea, Inspiratory stridor, Respiratory distress ORPHA:100050
Arnold-Chiari Malformation Type Ii
Cyanosis, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Respiratory insufficiency, Pulmonary arterial hypertension, Exertional dyspnea, Resp... ORPHA:98915
Oromandibular Dystonia
Weight loss, Respiratory distress ORPHA:93958
Atrioventricular Septal Defect 3
Cyanosis, Pulmonary arterial hypertension OMIM:600309
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Double Outlet Right Ventricle
Cyanosis, Tachypnea ORPHA:3426
Gaucher Disease, Perinatal Lethal
Petechiae, Respiratory distress, Neonatal death, Apnea, Purpura OMIM:608013
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Failure to thrive, Respiratory insufficiency due to muscle weakness, Respirat... OMIM:220110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Small for gestational age, Episodic tachypnea, Obesity, Tachypnea, Overweight, Respira... ORPHA:26793
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Palmoplantar cutis laxa, Dyspnea, Pulmonary arterial hypertension, P... ORPHA:363705
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Failure to thrive, Respiratory distress ORPHA:329178
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Prolonged neonatal jaundice, Jaundice OMIM:274150
Leigh Syndrome With Cardiomyopathy
Respiratory failure, Failure to thrive, Respiratory distress, Apnea, Central hypoventilation ORPHA:70474
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Cutis marmorata, Asthma, Urticaria, Cough, Respiratory insufficiency, Acrocyanosis, Pu... ORPHA:183
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells, Respiratory distress OMIM:271225
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Dyspnea, Pulmonar... ORPHA:980
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Acrocyanosis, Erythema, Urticaria ORPHA:343
Agnathia-Otocephaly Complex
Holoprosencephaly, Tracheomalacia, Respiratory distress OMIM:202650
Dravet Syndrome
Cyanotic episode ORPHA:33069
Diaphanospondylodysostosis
Respiratory insufficiency, Polymicrogyria, Tracheomalacia, Respiratory distress OMIM:608022
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Holoprosencephaly, Respiratory distress ORPHA:990
Shwachman-Diamond Syndrome 1
Small for gestational age, Failure to thrive, Myocardial necrosis, Respiratory distress, Neonatal... OMIM:260400
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Congenital Tracheal Stenosis
Cyanosis, Dyspnea, Upper airway obstruction, Neonatal asphyxia, Respiratory distress, Wheezing ORPHA:141127
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Respiratory distress, Hydrocephalus OMIM:612863
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Esophageal Atresia
Cyanosis, Restrictive ventilatory defect, Aspiration, Laryngotracheomalacia, Episodic respiratory... ORPHA:1199
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Respiratory failure, Failure to thrive, Respi... ORPHA:308552
Moebius Syndrome
Respiratory distress OMIM:157900
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Patent ductus arteriosus, Respiratory distress, Death in childhood OMIM:617303
Infantile Krabbe Disease
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia ORPHA:206436
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Respiratory distress ORPHA:2519
Radio-Renal Syndrome
Chylothorax, Respiratory failure, Pleural effusion, Dyspnea, Respiratory distress ORPHA:3015
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Cerebral arteriovenous malformation, Epistaxis, Hydrocephalus ORPHA:137667
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Kniest Dysplasia
Tracheomalacia, Respiratory distress OMIM:156550
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Asthma, Respiratory failure, Pulmonary arterial hypertension, Failure to thr... ORPHA:209905
Myasthenia Gravis
Acrocyanosis, Dyspnea ORPHA:589
Aicardi-Goutieres Syndrome 1
Petechiae, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cyanosis, Spontaneous, recurrent epistaxis, Conjunctival telangiectasia, Tongue telangiectasia, D... OMIM:610655
Vici Syndrome
Failure to thrive, Gray matter heterotopia, Abnormal posturing OMIM:242840
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cyanosis, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Hypoxemia, Nail bed telangiecta... OMIM:187300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Neonatal respiratory distress, Patent ductus arteriosus, Tracheomalacia, Respiratory distress OMIM:217980
Methylmalonic Aciduria, Cblb Type
Failure to thrive, Respiratory distress OMIM:251110
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cyanosis, Apnea, Respiratory failure, Respiratory insufficiency, Death in infancy OMIM:252010
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress OMIM:619383
Methylmalonic Aciduria, Cbla Type
Failure to thrive, Respiratory distress OMIM:251100
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Tracheomalacia, Respiratory distress, Hydrocephalus ORPHA:93259
Ramos-Arroyo Syndrome
Severe failure to thrive, Decreased body weight, Patent ductus arteriosus, Respiratory distress ORPHA:1051
Sporadic Infantile Bilateral Striatal Necrosis
Titubation, Abnormal posturing ORPHA:225147
Lujo Hemorrhagic Fever
Nonproductive cough, Ecchymosis, Crackles, Atelectasis, Rhinitis, Respiratory distress, Purpura ORPHA:319213
Oculopharyngodistal Myopathy 1
Restrictive ventilatory defect, Aspiration, Hypercapnia, Reduced forced vital capacity, Respirato... OMIM:164310
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Renal Dysplasia-Limb Defects Syndrome
Neonatal death, Respiratory failure, Pneumothorax, Respiratory distress OMIM:266910
Farber Disease
Atelectasis, Respiratory insufficiency, Failure to thrive, Respiratory distress ORPHA:333
Auriculocondylar Syndrome
Obstructive sleep apnea, Snoring, Respiratory distress ORPHA:137888
Arterial Tortuosity Syndrome
Prematurely aged appearance, Respiratory failure, Dyspnea, Telangiectasia of the skin, Cardioresp... ORPHA:3342
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Increased... ORPHA:542323
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Poems Syndrome
Restrictive ventilatory defect, Pleural effusion, Pulmonary arterial hypertension, Respiratory in... ORPHA:2905
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia, Respiratory distress, Aspiration OMIM:618733
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Restrictive ventilatory defect, Respiratory distress OMIM:183900
Biotinidase Deficiency
Apnea, Hyperventilation, Myelopathy, Respiratory distress ORPHA:79241
Bacterial Toxic-Shock Syndrome
Sinusitis, Pneumonia, Ecchymosis, Tachypnea, Respiratory distress ORPHA:36234
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Patent ductus arteriosus, Respiratory distress OMIM:300968
Rare Circulatory System Disease
Cyanosis ORPHA:98028
Hemangiomatosis, Cutaneous, With Associated Features
Acrocyanosis OMIM:234800
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Pachyonychia Congenita
Failure to thrive, Respiratory distress ORPHA:2309
Glycogen Storage Disease Due To Acid Maltase Deficiency
Sleep apnea, Respiratory failure, Atelectasis, Exertional dyspnea, Failure to thrive, Respiratory... ORPHA:365
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Airway obstruction, Patent ductus arteriosus, Pulmonary arterial hypertension, Stridor, Respirato... ORPHA:505248
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis OMIM:261740
Nocardiosis
Emphysema, Nonproductive cough, Pneumonia, Respiratory failure, Pleural effusion, Dyspnea, Produc... ORPHA:31204
Goodpasture Syndrome
Cyanosis, Restrictive ventilatory defect, Increased DLCO, Crackles, Tachypnea, Cough, Exertional ... OMIM:233450
Mgat2-Cdg
Failure to thrive, Patent ductus arteriosus, Respiratory distress ORPHA:79329
Japanese Encephalitis
Irregular respiration, Abnormal pattern of respiration, Paucity of anterior horn motor neurons, R... ORPHA:79139
Unilateral Polymicrogyria
Apnea, Abnormal posturing, Epistaxis, Perisylvian polymicrogyria ORPHA:268943
Cryptococcosis
Pneumonia, Pleural effusion, Cough, Dyspnea, Respiratory distress, Hydrocephalus ORPHA:1546
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Idiopathic Hypereosinophilic Syndrome
Vasculitis in the skin, Cutis marmorata, Angioedema, Asthma, Pulmonary embolism, Urticaria, Cough... ORPHA:3260
Mogs-Cdg
Apnea, Hypoventilation, Respiratory distress ORPHA:79330
Aortic Arch Interruption
Cyanosis, Tachypnea, Exertional dyspnea, Respiratory distress ORPHA:2299
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hydrocephalus ORPHA:1555
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cyanosis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Conjunctival telangiectasia,... OMIM:600376
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Pfeiffer Syndrome Type 3
Aqueductal stenosis, Tracheomalacia, Respiratory distress ORPHA:93260
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Tarp Syndrome
Cyanosis, Apnea ORPHA:2886
Q Fever
Pneumonia, Pleural effusion, Cough, Respiratory distress, Weight loss ORPHA:781
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Pulmonary arterial hypertension, Failure to thrive, Respiratory distress, Hyd... ORPHA:79282
Meier-Gorlin Syndrome 1
Emphysema, Small for gestational age, Failure to thrive, Respiratory distress, Death in infancy OMIM:224690
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Alternating Hemiplegia Of Childhood
Apnea, Flushing, Respiratory distress, Aspiration ORPHA:2131
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Purpura, Hypopnea ORPHA:2330
Campomelic Dysplasia
Tracheomalacia, Spinal dysraphism, Failure to thrive, Stridor, Spina bifida, Respiratory distress... OMIM:114290
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cough ORPHA:137675
Sandifer Syndrome
Abnormal posturing ORPHA:71272
Hemorrhagic Fever-Renal Syndrome
Petechiae, Pneumonia, Ecchymosis, Respiratory failure, Cough, Pleural effusion, Dyspnea, Respirat... ORPHA:340
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:99050
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Asthma, Obstructive sleep apnea, Cardiorespiratory arrest, Hypoventilation, Central hyp... ORPHA:293987
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Respiratory distress OMIM:613309
Toxic Epidermal Necrolysis
Erythema, Cough, Respiratory distress, Restrictive ventilatory defect ORPHA:537
Cocaine Intoxication
Tachypnea, Cough, Hyperventilation, Pneumothorax, Respiratory distress, Wheezing ORPHA:90068
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Failure to thrive in infancy, Interstitial pneumonitis, Respiratory distress, Cachexia ORPHA:37042
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Restrictive ventilatory defect, Tracheomalacia, Atelectasis, Repeated pn... ORPHA:536467
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Patent ductus arteriosus, Respiratory distress ORPHA:210122
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Decreased sensitivity to hypoxemia OMIM:223900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Failure to thrive, Patent ductus arteriosus, Respiratory distress ORPHA:17
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation, Apnea ORPHA:255210
Parkes Weber Syndrome
Cerebral arteriovenous malformation, Myelopathy ORPHA:90307
Listeriosis
Pneumonia, Respiratory failure, Jaundice, Miscarriage, Respiratory distress ORPHA:533
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles, Respiratory distress OMIM:305100
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Hyperventilation, Abnormal pattern of respiration ORPHA:2896
Congenital Disorder Of Deglycosylation 1
Decreased body weight, Central sleep apnea, Respiratory distress OMIM:615273
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory failure, Dyspnea, Failure to thrive, Stridor, Pneumothorax, Respiratory di... ORPHA:79404
Colchicine Poisoning
Cardiorespiratory arrest, Respiratory distress ORPHA:31824
Prader-Willi Syndrome Due To Translocation
Obesity, Patent ductus arteriosus, Respiratory distress ORPHA:177907
Eisenmenger Syndrome
Cyanosis, Hypoxemia, Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Ex... ORPHA:97214
Ear-Patella-Short Stature Syndrome
Failure to thrive, Respiratory failure, Respiratory distress, Dyspnea ORPHA:2554
Osteoglophonic Dysplasia
Failure to thrive, Respiratory distress OMIM:166250
Coccidioidomycosis
Pneumonia, Exudative pleural effusion, Cough, Respiratory distress, Hydrocephalus, Pleural empyema ORPHA:228123
Isolated Arrhinia
Respiratory distress ORPHA:1134
Adnp Syndrome
Respiratory distress, Aspiration, Truncal obesity ORPHA:404448
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory acidosis, Respiratory distress, Neonatal respiratory distress, Fragile skin OMIM:614748
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Prominent superficial blood vessels, Exertional dyspnea, Pulmonary arterial hypertensio... ORPHA:740
Microphthalmia With Linear Skin Defects Syndrome
Respiratory failure, Dyspnea, Failure to thrive, Respiratory distress, Hydrocephalus ORPHA:2556
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Epistaxis OMIM:175050
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Scimitar Syndrome
Patent ductus arteriosus, Cough, Pulmonary arterial hypertension, Pneumothorax, Respiratory distress ORPHA:185
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Patent ductus arteriosus, Failure to thrive, Respiratory distress, Hydrocephalu... OMIM:306955
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis, Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Paroxys... ORPHA:99125
Dermatomyositis
Erythema, Cutaneous photosensitivity, Respiratory insufficiency, Telangiectasia of the skin, Pulm... ORPHA:221
Arboleda-Tham Syndrome
Neonatal respiratory distress, Patent ductus arteriosus, Respiratory distress OMIM:616268
Juvenile Polyposis Syndrome
Cerebral arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary arterial hyperte... ORPHA:2929
Schinzel-Giedion Syndrome
Neural tube defect, Respiratory distress, Recurrent pneumonia, Failure to thrive in infancy ORPHA:798
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Respiratory distress OMIM:617088
Familial Dysautonomia
Acrocyanosis ORPHA:1764
Phace Syndrome
Cerebral arteriovenous malformation ORPHA:42775
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Postinfectious Vasculitis
Vasculitis in the skin, Cutis marmorata, Pneumonia, Palpable purpura, Acrocyanosis ORPHA:48435
Tuberous Sclerosis Complex
Generalized abnormality of skin, Respiratory failure, Respiratory distress ORPHA:805
Cleidocranial Dysplasia
Neonatal respiratory distress, Respiratory distress OMIM:119600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Failure to thrive, Patent ductus arteriosus, Small for gestational age ORPHA:2255
Gitelman Syndrome
Failure to thrive, Respiratory distress ORPHA:358
Truncus Arteriosus
Cyanosis, Tachypnea ORPHA:3384
Leptospirosis
Respiratory distress, Pleural effusion, Cough, Jaundice ORPHA:509
Stüve-Wiedemann Syndrome
Asthma, Apnea, Respiratory distress ORPHA:3206
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Cough, Rhinitis, Chronic lung dise... ORPHA:95455
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interferon secretion, Abnormali... ORPHA:544482
Rubinstein-Taybi Syndrome 1
Patent ductus arteriosus, Truncal obesity, Failure to thrive, Obstructive sleep apnea, Respirator... OMIM:180849
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Respiratory distress ORPHA:83617
Doors Syndrome
Polymicrogyria, Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Arrhinencephaly ORPHA:79500
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Cutis marmorata ORPHA:51
Generalized Arterial Calcification Of Infancy
Cyanosis, Pulmonary arterial hypertension, Respiratory distress ORPHA:51608
Classical Ehlers-Danlos Syndrome
Bruising susceptibility, Ecchymosis, Prematurely aged appearance, Poor wound healing, Acrocyanosi... ORPHA:287
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Abnormal cortical gyration, Patent ductus arteriosus, Respiratory distress ORPHA:480880
Ulbright-Hodes Syndrome
Respiratory failure, Pneumothorax, Respiratory distress ORPHA:3404
Hypermobile Ehlers-Danlos Syndrome
Apnea, Acrocyanosis ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
8Q24.3 Microdeletion Syndrome
Spina bifida occulta, Respiratory distress, Patent ductus arteriosus, Small for gestational age ORPHA:508488
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Failure to thrive, Recurrent pneumonia, Respiratory distress ORPHA:99646
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Alström Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Dorsocervical fat pad, Pulmonary arterial hy... ORPHA:64
Pmm2-Cdg
Aspiration pneumonia, Failure to thrive, Respiratory distress ORPHA:79318
Autosomal Recessive Non-Syndromic Intellectual Disability
Polymicrogyria ORPHA:88616
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) Cc2d1atm1c(KOMP)Wtsi Cc2d1atm1a(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) Cc2d1atm1a(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) Cc2d1atm1c(KOMP)Wtsi Cc2d1atm1a(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) Cc2d1atm1c(KOMP)Wtsi Cc2d1atm1a(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) Cc2d1atm1a(KOMP)Wtsi PMC3442552

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MGI Allele Allele Type Produced
Cc2d1atm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cc2d1atm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cc2d1atm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cc2d1atm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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