banner
Genes Phenotypes Help, News, Blog

Gene: Cyp1a2 MGI:88589

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cytochrome P450, family 1, subfamily a, polypeptide 2
Synonyms:
CP12,  aromatic compound inducible,  P450-3

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 Cyp1a2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cyp1a2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Recurrent Respiratory Papillomatosis
Respiratory distress, Fever, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory t... ORPHA:60032
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Pulmonary Blastoma
Fever, Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Acute Interstitial Pneumonia
Fever, Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, ... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneum... ORPHA:2902
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
High Altitude Pulmonary Edema
Fever, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary o... ORPHA:330012
Cryptogenic Organizing Pneumonia
Respiratory distress, Fever, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Ground-glass o... ORPHA:1302
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Perching Syndrome
Respiratory distress, Fever, Cyanosis, Dysphagia OMIM:617055
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Tracheobronchopathia Osteochondroplastica
Fever, Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wh... ORPHA:3348
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Fever, Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Non... ORPHA:79127
Chronic Pneumonitis Of Infancy
Respiratory distress, Fever, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduc... ORPHA:91359
Bronchogenic Cyst
Fever, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura mo... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Primary Erythromelalgia
Recurrent respiratory infections, Erythema, Hypothermia ORPHA:90026
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Dyspnea, Abnormal lung morphology, Abnor... ORPHA:50251
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Dyspnea, Acute i... ORPHA:140896
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Persistent fever, Recurrent... OMIM:620321
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic Bronchiectasis
Fever, Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bro... ORPHA:60033
Acute Lung Injury
Respiratory distress, Fever, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Idiopathic Acute Eosinophilic Pneumonia
Fever, Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ... ORPHA:724
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea ORPHA:254361
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Fever, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bron... ORPHA:411703
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Fever, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pu... ORPHA:36238
Autoimmune Pulmonary Alveolar Proteinosis
Fever, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation... ORPHA:747
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Dysphagia, Cough, Abnormal pattern of res... ORPHA:77260
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Respiratory distress, Death in infancy OMIM:300219
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms OMIM:616341
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respirat... OMIM:245400
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... ORPHA:137914
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Nipah Virus Disease
Respiratory distress, Fever, Anorexia, Recurrent pharyngitis, Cough ORPHA:99825
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Low-grade fever, Cough, Pulmonary arterial hyp... ORPHA:1164
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy, Hypothermia OMIM:610006
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pneumocystosis
Fever, Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductiv... ORPHA:723
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Spontaneous Periodic Hypothermia
Abnormal pattern of respiration, Hypothermia ORPHA:29822
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Abnormal pattern of respiration, Hypothermia ORPHA:168593
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Avian Influenza
Respiratory distress, Fever, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification... ORPHA:454836
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Timothy Syndrome
Pulmonary arterial hypertension, Hypothermia, Pneumonia, Bronchitis OMIM:601005
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia, Respiratory insufficiency OMIM:614654
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea, Hypothermia OMIM:614498
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Meningococcal Meningitis
Fever, Neonatal respiratory distress, Anorexia, Hypothermia, Petechiae, Purpura ORPHA:33475
Autosomal Dominant Hyper-Ige Syndrome
Fever, Recurrent respiratory infections, Atelectasis, Cough, Generalized abnormality of skin ORPHA:2314
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Neoplasm of the lung, Stridor... ORPHA:142
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Hypothermia, Prolonged neonatal jaundice ORPHA:226313
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... OMIM:606763
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Idiopathic Congenital Hypothyroidism
Hypothermia, Prolonged neonatal jaundice ORPHA:95717
Lymphangioleiomyomatosis
Fever, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrate... ORPHA:538
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Hypothermia, Jaundice, Tachypnea ORPHA:26793
Diffuse Alveolar Hemorrhage
Fever, Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, I... ORPHA:90060
Riboflavin Deficiency
Hypothermia OMIM:615026
Ethylene Glycol Poisoning
Cyanosis, Hypothermia, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal ... ORPHA:31826
Malaria
Respiratory distress, Fever ORPHA:673
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Tularemia
Respiratory distress, Fever, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary in... ORPHA:3392
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Fever, Hypothermia ORPHA:292
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia OMIM:618493
Lujo Hemorrhagic Fever
Respiratory distress, Fever, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Dysphagia, Ecc... ORPHA:319213
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Hypothermia, Respiratory insufficiency ORPHA:159
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Goodpasture Syndrome
Fever, Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increas... OMIM:233450
Idiopathic Pulmonary Hemosiderosis
Fever, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-... ORPHA:99931
Lymphoid Interstitial Pneumonia
Fever, Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infectio... ORPHA:79128
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Succinic Acidemia
Respiratory distress OMIM:600335
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary a... ORPHA:258
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Hypothermia, Aggressive be... ORPHA:293987
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... ORPHA:2038
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Menkes Disease
Hypothermia, Death in childhood OMIM:309400
Familial Thyroid Dyshormonogenesis
Hypothermia, Prolonged neonatal jaundice ORPHA:95716
Eosinophilic Granulomatosis With Polyangiitis
Fever, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morpholog... ORPHA:183
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... OMIM:614742
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Granulomatous Disease, Chronic, X-Linked
Fever, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl... OMIM:613177
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Apnea, Anorexia, Hypothermia, Jaundice, Tachypnea ORPHA:20
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Aggressive behavior OMIM:237310
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Breath-Holding Spells
Cyanosis OMIM:607578
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Apnea, Hypothermia, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation ORPHA:255210
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Hyperactivity, Neonatal respiratory distr... ORPHA:209905
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Apnea, Tongue thrusting, Cardiorespiratory arrest, Temperature instability OMIM:608643
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Hypothermia, Aggressive behavior ORPHA:17
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:269860
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv... OMIM:619580
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Sepsis In Premature Infants
Fever, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respi... ORPHA:90051
Zygomycosis
Fever, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious p... ORPHA:73263
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Pulmonary embolism, Agitation, Aspiration pneumonia, Dysphagia ORPHA:94093
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... ORPHA:3309
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Hyperventilation OMIM:618775
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Aspiration pneumonia, Dysphagia ORPHA:99027
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Hypothermia, Respiratory insufficiency OMIM:618329
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... ORPHA:980
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor, Dysphagia OMIM:207950
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... ORPHA:1199
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Hypothermia ORPHA:230
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Tetanus
Respiratory distress, Fever, Tachypnea, Dysphagia ORPHA:3299
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Dysphagia, Neonatal death, Petechiae, Purpura OMIM:608013
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... OMIM:616278
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... ORPHA:1329
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, Chylothorax, Dys... OMIM:620278
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Alexander Disease
Self-injurious behavior, Hypothermia, Respiratory insufficiency, Dysphagia ORPHA:58
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Hsd10 Disease, Infantile Type
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia ORPHA:391428
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Temperature instability, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Sarcoidosis
Fever, Abnormal nasal mucosa morphology, Abnormal pleura morphology, Hypothermia, Dyspnea, Abnorm... ORPHA:797
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Genetic Transient Congenital Hypothyroidism
Hypothermia, Prolonged neonatal jaundice ORPHA:226316
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Dysphagia, Bruising sus... ORPHA:642
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Inhalational Anthrax
Respiratory distress, Dyspnea, Fever ORPHA:247257
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypothermia, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension ORPHA:79282
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Nasolacrimal Duct Cyst
Fever, Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnor... ORPHA:141083
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Congenital Fibrinogen Deficiency
Fever, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia ORPHA:89844
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Nocardiosis
Respiratory distress, Fever, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea,... ORPHA:31204
Double Outlet Right Ventricle
Pulmonary artery atresia, Cyanosis, Tachypnea ORPHA:3426
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hypothermia OMIM:251880
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia ORPHA:79312
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:235555
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Tbck-Related Intellectual Disability Syndrome
Asthma, Hypothermia, Respiratory insufficiency ORPHA:488632
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Dysphagia OMIM:620166
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Myotonic Dystrophy 1
Respiratory distress, Obsessive-compulsive trait, Dysphagia OMIM:160900
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Buerger Disease
Acrocyanosis ORPHA:36258
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Attention deficit hyperactivity disorder, Prolonged neonatal jaundice ORPHA:90674
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Anorexia ORPHA:79242
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Prolonged neonatal jaundice ORPHA:90673
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Agitation, Abnormal repetitive mannerisms ORPHA:927
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Attention deficit hyperactivity disorder OMIM:619383
Q Fever
Respiratory distress, Fever, Pneumonia, Anorexia, Abnormal pulmonary interstitial morphology, Cou... ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Dravet Syndrome
Obsessive-compulsive trait, Cyanotic episode, Impulsivity ORPHA:33069
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Erythe... ORPHA:537
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Meckel Syndrome 14
Cardiorespiratory arrest, Pneumothorax, Pulmonary hypoplasia, Cyanosis OMIM:619879
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Respiratory distress, Respiratory failure, Palmoplantar cutis laxa, Neonatal death... OMIM:616482
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Cocaine Intoxication
Respiratory distress, Fever, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothora... ORPHA:90068
Cryptococcosis
Respiratory distress, Fever, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleura... ORPHA:1546
Hughes-Stovin Syndrome
Fever, Pulmonary embolism, Dyspnea, Cardiorespiratory arrest, Cough, Pulmonary artery aneurysm, P... ORPHA:228116
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Self-... ORPHA:534
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Oromandibular Dystonia
Respiratory distress, Dysphagia, Bruxism ORPHA:93958
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Angioedema, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway o... ORPHA:36412
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Fever, Cutis marmorata, Pulmonary embolism, Cough, Dyspnea, Angioedema, Ast... ORPHA:3260
Sarcoidosis, Susceptibility To, 1
Fever, Anorexia, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:181000
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness ORPHA:544503
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fever, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchym... ORPHA:36234
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Recurre... OMIM:223900
Aicardi-Goutieres Syndrome 1
Fever, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura OMIM:225750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis OMIM:620365
Dermatomyositis
Fever, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary... ORPHA:221
Marburg Hemorrhagic Fever
Fever, Anorexia, Aggressive behavior, Hypothermia, Nonproductive cough, Jaundice, Bruising suscep... ORPHA:99826
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... OMIM:123700
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis ORPHA:268943
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor ORPHA:100050
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Fever, Prolonged neonatal jaundice OMIM:274150
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia ORPHA:98805
22Q11.2 Deletion Syndrome
Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Attention deficit hyp... ORPHA:567
Moebius Syndrome
Respiratory distress, Dysphagia OMIM:157900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Hypothermia, Breathing dysregulation, Aspiration pneumonia, Dysphagia, St... ORPHA:438213
Histiocytoid Cardiomyopathy
Fever, Cyanosis, Tachypnea, Cough, Pulmonary edema ORPHA:137675
Stt3B-Cdg
Respiratory distress ORPHA:370924
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Urticaria, Acrocyanosis, Recurrent fever, Purpura ORPHA:343
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Japanese Encephalitis
Respiratory distress, Irregular respiration, Fever, Anorexia, Respiratory paralysis, Abnormal pat... ORPHA:79139
Chand Syndrome
Atelectasis ORPHA:1401
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... OMIM:617303
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Fever, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough... ORPHA:340
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Dysphagia, Aggressive behavior ORPHA:488627
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Menkes Disease
Spontaneous hematomas, Hypothermia, Prolonged neonatal jaundice ORPHA:565
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Occipital Horn Syndrome
Jaundice, Bruising susceptibility, Hypothermia, Dysphagia ORPHA:198
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Netherton Syndrome
Urticaria, Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Malignant hyperthermia, Abnormal pleura morphology ORPHA:1764
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivit... ORPHA:2131
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Temperature instability, Unexplained fevers ORPHA:206436
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema ORPHA:79330
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia OMIM:607143
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... ORPHA:805
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... ORPHA:363705
Myasthenia Gravis
Dyspnea, Acrocyanosis, Dysphagia ORPHA:589
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Tarp Syndrome
Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Hypothermia OMIM:218700
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ... ORPHA:567983
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Recurrent upper respiratory... ORPHA:404448
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Restlessness, Fever, Oral-pharyngeal dysp... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Prolonged neonatal jaundice ORPHA:226307
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Head-banging, Abnormal temper tantrums, C... ORPHA:177907
Digeorge Syndrome
Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Attention deficit hypera... OMIM:188400
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Leptospirosis
Respiratory distress, Fever, Anorexia, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage ORPHA:509
Listeriosis
Respiratory distress, Fever, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Coccidioidomycosis
Respiratory distress, Fever, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal conso... ORPHA:228123
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Postinfectious Vasculitis
Fever, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanos... ORPHA:48435
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Unexplained... ORPHA:79404
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress OMIM:251000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Stereotypical hand ... ORPHA:79329
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo... ORPHA:37042
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,... ORPHA:505248
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Fever, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, H... OMIM:305100
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Pneumonia, Anore... ORPHA:95455
Pitt-Hopkins Syndrome
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... ORPHA:2896
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... ORPHA:97214
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice OMIM:617156
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Beare-Stevenson Cutis Gyrata Syndrome
Palmoplantar cutis laxa, Respiratory distress OMIM:123790
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Ramos-Arroyo Syndrome
Respiratory distress, Self-mutilation ORPHA:1051
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Dysphagia,... OMIM:616268
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv... ORPHA:466943
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Plague
Acute infectious pneumonia, Fever, Respiratory distress, Anorexia ORPHA:707
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Impulsivity, Respiratory tract infection, Recurrent upper re... OMIM:180849
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia, Dysphagia ORPHA:798
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... ORPHA:740
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Abnormal lung lobation, Tics, Dysphagia ORPHA:508488
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Recurrent fever ORPHA:3206
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Erythema ORPHA:2556
Gitelman Syndrome
Respiratory distress, Polydipsia, Salt craving ORPHA:358
Aicardi-Goutières Syndrome
Acrocyanosis, Cutis marmorata, Unexplained fevers, Prolonged neonatal jaundice ORPHA:51
Isolated Arrhinia
Respiratory distress ORPHA:1134
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Generalized Arterial Calcification Of Infancy
Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Fever ORPHA:51608
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis ORPHA:2255
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... ORPHA:287
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:480880
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Apnea ORPHA:285
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Recurrent upper respiratory tract infections, Recurr... ORPHA:64
Pmm2-Cdg
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Fever, Aspiration pneumonia ORPHA:79318

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 Cyp1a2

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 Cyp1a2.

No publications found that use IMPC mice or data for Cyp1a2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cyp1a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cyp1a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter