Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane protein 38B
Synonyms:
D4Ertd89e,  1600017F22Rik,  TRIC-B

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 Tmem38b 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 Tmem38b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Xiv
OMIM:615066

The table below shows human diseases predicted to be associated to Tmem38b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Acute Interstitial Pneumonia
Crackles, Respiratory failure, Elevated circulating C-reactive protein concentration, Reticulonod... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... ORPHA:90117
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Acute Lung Injury
Hypoxemia, Increased circulating surfactant protein level, Pneumonia, Tachypnea, Respiratory dist... ORPHA:178320
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Elevated carci... ORPHA:264675
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... OMIM:268500
Pyknoachondrogenesis
Stillbirth OMIM:265880
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal lung morphology, Ab... ORPHA:50251
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Bronchiolitis, Exertional dyspnea, Pulmonary ... ORPHA:254361
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... ORPHA:36238
Apnea, Central Sleep
Abnormal pattern of respiration, Cyanosis, Sleep apnea, Lactic acidosis, Irregular respiration OMIM:207720
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Elevated lactate:... OMIM:619003
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Diabetic ketoacidosis, Abnormal blood gas level, Pulmonary edema, Pulmonary... ORPHA:70578
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Abnormal circulating ... ORPHA:747
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... ORPHA:2357
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased serum lactate, Respiratory distress, Cyanosis, Metabolic acidosis, Lactic acidosis ORPHA:91130
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Neonatal respiratory distress, Increased serum lactate OMIM:619062
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Metabolic acidosis OMIM:301021
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cough, Abnormal pattern of respiration ORPHA:77260
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis OMIM:616794
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Elevated circulating creatine ... ORPHA:266
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum lactate, Respiratory insufficiency, Increased serum pyruvate ORPHA:238329
Avian Influenza
Productive cough, Hypoxemia, Hypoalbuminemia, Pneumonia, Tachypnea, Pneumothorax, Elevated circul... ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Lactic acidosis, Pulmonary hypoplasia, Increased serum lactate OMIM:614096
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Mitochondrial Complex I Deficiency, Nuclear Type 32
Metabolic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:618252
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Elevated circulating creatine kinase conce... OMIM:613869
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Elevated circulating creatinine concent... ORPHA:90060
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Lactic acidosis, Death in infancy, Increased serum lactate OMIM:604377
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Recurrent respi... OMIM:607616
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Apnea, Metabolic acidosis OMIM:618235
Ciliary Dyskinesia, Primary, 1
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chroni... OMIM:244400
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Death in infancy, Elevated circulating creatine kinase concentration, Increased ... OMIM:619386
Nephronophthisis 2
Hyperkalemia, Respiratory insufficiency, Elevated circulating creatinine concentration, Hyperkale... OMIM:602088
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Slc35A1-Cdg
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Lactic acidosis, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... OMIM:618781
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Neonatal death, Death... OMIM:245400
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... OMIM:606763
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:616867
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia OMIM:616733
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Increased serum lactate, Death in infancy OMIM:617248
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Nasal polypo... OMIM:618695
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lactic acidosis OMIM:615595
Fanconi Renotubular Syndrome 5
Hyperchloremic metabolic acidosis, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis, Dec... OMIM:618913
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Lactic acidosis, Death in infancy, Respiratory insufficiency OMIM:614299
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Immunodeficiency 54
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:609981
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Tracheomalacia, Recurrent respi... OMIM:617180
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Severe lactic acidosis, Mildly elevated creatine kinase, Respiratory distress, Ventilator depende... ORPHA:254864
Epilepsy, Early-Onset, Vitamin B6-Dependent
Metabolic acidosis, Apnea, Respiratory insufficiency OMIM:617290
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Lactic acidosis, Increased serum lactate, Increased serum pyruvate OMIM:614741
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Elevated circulating creatinine concentration, Cough, Pulmonary infiltrates, Recu... OMIM:619468
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Perching Syndrome
Respiratory distress OMIM:617055
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:142
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea, Recurrent respiratory infections ORPHA:2759
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Diarrhea 12, With Microvillus Atrophy
Metabolic acidosis, Respiratory tract infection, Bronchiectasis OMIM:619445
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Pulmonary ... ORPHA:538
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Nipah Virus Disease
Recurrent pharyngitis, Respiratory distress, Cough ORPHA:99825
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased total bilirubin, Jaundice ORPHA:890
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema OMIM:123700
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased serum lactate, Mildly elevated creatine kinase ORPHA:457050
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Lactic acidosis, Death in infancy OMIM:618240
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death OMIM:611890
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... OMIM:614874
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Autosomal Dominant Hyper-Ige Syndrome
Generalized abnormality of skin, Recurrent respiratory infections, Cough, Atelectasis ORPHA:2314
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Waardenburg Syndrome Type 3
Acrocyanosis, Tracheomalacia, Atelectasis ORPHA:896
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Respiratory failur... OMIM:610678
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Tachypnea, Elevated circulating creatinine concentration, Hyperbilirubinemia, Pulmonar... ORPHA:542323
Hypophosphatasia
Hypercalcemia, Emphysema, Respiratory insufficiency ORPHA:436
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Cough, Increased circulating ferritin concentration, Abnormal pl... ORPHA:210136
Short Chain Acyl-Coa Dehydrogenase Deficiency
Metabolic acidosis, Respiratory distress, Elevated circulating acylcarnitine concentration ORPHA:26792
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Increased serum lactate, Central sleep apnea, Metabolic acidosis, Respir... ORPHA:70472
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea ORPHA:71277
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory failure, Lactic acidosis, Respiratory insufficiency, Metabolic acidosis OMIM:615330
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Mitochondrial Phosphate Carrier Deficiency
Metabolic acidosis, Cyanosis, Lactic acidosis, Respiratory insufficiency OMIM:610773
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Tularemia
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... ORPHA:3392
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Apnea, Central... ORPHA:168486
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:616209
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Acquired Methemoglobinemia
Hypoxemia, Respiratory distress, Cyanosis, Dyspnea, Acidosis ORPHA:464453
Mercury Poisoning
Hypokalemia, Interstitial pneumonitis, Respiratory distress, Respiratory failure, Dyspnea ORPHA:330021
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... OMIM:614742
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Ciliary Dyskinesia, Primary, 15
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Tricuspid Atresia
Cyanosis, Pulmonary artery atresia ORPHA:1209
Pulmonary Arteriovenous Malformation
Hypoxemia, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmonary hemorrhag... ORPHA:2038
Aspergillosis
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Ground-glass opacification, ... ORPHA:1163
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Pulmonary hypoplasia OMIM:617895
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Bloody bronchoalveolar lavage fluid, Crac... OMIM:233450
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Centrilobular ... ORPHA:79128
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Mitochondrial Complex I Deficiency, Nuclear Type 29
Increased serum lactate, Hyperalaninemia OMIM:618250
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Respiratory insufficiency due to muscle weakness, Increased serum lactate OMIM:300816
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress, Elevated circulating glutaric acid concentration, Pulmonary... OMIM:231680
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Increased serum lactate OMIM:616277
Farber Disease
Respiratory insufficiency, Respiratory distress, Recurrent upper respiratory tract infections, Di... ORPHA:333
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Respiratory insuff... ORPHA:308552
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Respiratory insufficiency, Elevated circulating creatine kinase concentration ORPHA:370968
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Leigh Syndrome
Respiratory insufficiency, Abnormal pattern of respiration, Increased serum lactate, Respiratory ... OMIM:256000
Ciliary Dyskinesia, Primary, 14
Wheezing, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Ethylene Glycol Poisoning
Hyperkalemia, Episodic respiratory distress, Abnormal pattern of respiration, Tachypnea, Cyanosis... ORPHA:31826
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Absent cen... OMIM:617091
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Intercostal muscle weakness, Respiratory insufficiency, Pulmonar... ORPHA:258
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Brown-Vialetto-Van Laere Syndrome 1
Stridor, Respiratory insufficiency, Respiratory distress, Recurrent respiratory infections, Noctu... OMIM:211530
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Increased serum lactate, Hyperglycinemia OMIM:619063
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Mitochondrial Complex I Deficiency, Nuclear Type 3
Metabolic acidosis, Respiratory insufficiency OMIM:618224
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Increased serum... ORPHA:663
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Cyanosis, Respiratory failure, Lactic acidosis ORPHA:444013
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Mitochondrial Complex I Deficiency, Nuclear Type 34
Metabolic acidosis, Lactic acidosis, Respiratory failure requiring assisted ventilation OMIM:618776
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Combined Oxidative Phosphorylation Deficiency 9
Ketoacidosis, Elevated lactate:pyruvate ratio, Increased serum lactate, Hyperalaninemia, Elevated... OMIM:614582
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Cyanosis, Apnea OMIM:240200
Hyperekplexia 4
Respiratory failure OMIM:618011
Locked-In Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2406
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Respiratory insuff... ORPHA:365
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Bruising susceptibility ORPHA:3226
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Tachypnea, Cyanosis, Anomalous pulmonary venous return, Respiratory failure, Respirato... ORPHA:555874
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum lactate, Hyperammonemia, Hyperalaninemia, Episodic tachypnea, Elevated circulatin... OMIM:615160
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased serum lactate OMIM:618245
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Increased serum pyruvate, Increased serum lactate OMIM:619224
Hyperglycinemia, Lactic Acidosis, And Seizures
Lactic acidosis, Apnea, Increased serum lactate, Respiratory insufficiency OMIM:614462
Oxoglutarate Dehydrogenase Deficiency
Metabolic acidosis, Congenital lactic acidosis, Increased serum lactate, Death in childhood OMIM:203740
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Respiratory distress, Neonatal respiratory di... OMIM:615042
Double Outlet Right Ventricle
Tachypnea, Cyanosis, Pulmonary artery atresia, Hypocalcemia ORPHA:3426
Riddle Syndrome
Telangiectasia, Pneumonia, Chronic sinusitis, Conjunctival telangiectasia, Erythema, Respiratory ... ORPHA:420741
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Severe lactic acidosis, Chronic lactic ... OMIM:312170
Interstitial Lung And Liver Disease
Hypoxemia, Respiratory insufficiency, Lactic acidosis, Cough, Hyperammonemia, Abnormal pulmonary ... OMIM:615486
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 44
Increased serum lactate OMIM:618855
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, Hypera... ORPHA:26793
Mitochondrial Myopathy, Infantile, Transient
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:500009
Coenzyme Q10 Deficiency, Primary, 5
Lactic acidosis, Increased serum lactate, Respiratory insufficiency, Hyperalaninemia OMIM:614654
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Cough, Recurrent intrapulmonary hemorrhage, Acrocyanosis, U... ORPHA:183
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Lactic acidosis, Increased serum lactate OMIM:615838
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Tetrasomy 5P
Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... ORPHA:3309
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Low plasma citrulline, Lactic acidosis OMIM:261680
Sengers Syndrome
Exercise-induced lactic acidemia, Increased serum lactate, Respiratory insufficiency OMIM:212350
Congenital Tracheal Stenosis
Wheezing, Pulmonary artery atresia, Abnormal lung lobation, Upper airway obstruction, Respiratory... ORPHA:141127
Cholera
Hyponatremia, Palmoplantar cutis laxa, Hypokalemia, Tachypnea, Hypocalcemia, Lactic acidosis, Aci... ORPHA:173
Mitochondrial Complex I Deficiency, Nuclear Type 14
Lactic acidosis, Apnea, Increased serum lactate OMIM:618236
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax, Increased serum lactate ORPHA:445038
Mitochondrial Complex I Deficiency, Nuclear Type 8
Lactic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:618230
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates, Increased alpha-globulin OMIM:235900
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Neonatal death, Apnea, Erythema, Hyperammonemia, Hypoglutaminemia,... OMIM:610015
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Elevated circulat... ORPHA:352447
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Respiratory insufficiency, Pulmonary arterial hypertension, Hyperuricemia, Hypomagn... OMIM:613845
Combined Oxidative Phosphorylation Deficiency 38
Lactic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:618378
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Lipoyltransferase 1 Deficiency
Death in infancy, Pulmonary arterial hypertension, Increased serum lactate, Increased total bilir... OMIM:616299
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pulmonary arterial hypertension, Pleur... ORPHA:662
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Odontochondrodysplasia 1
Death in infancy, Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Mitochondrial Complex I Deficiency, Nuclear Type 22
Lactic acidosis, Respiratory insufficiency OMIM:618243
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Cyanosis, Pulmonary edema, Recurrent... ORPHA:980
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema OMIM:617300
Laryngeal Abductor Paralysis
Cyanosis, Stridor OMIM:150260
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Lactic acidosis, Death in infancy, Increased serum lactate OMIM:617186
Pontocerebellar Hypoplasia, Type 6
Apnea, Increased serum lactate, Death in childhood OMIM:611523
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Apnea, Increased serum lactate, Hyperalaninemia, Metabolic acidosis OMIM:619048
Immunodeficiency 27A
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia, Hypoalbuminemia OMIM:209950
Developmental And Epileptic Encephalopathy 53
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617389
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Geleophysic Dysplasia 3
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea OMIM:617809
Bacterial Toxic-Shock Syndrome
Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Elevated circulating creatine kinase concentration, ... ORPHA:36234
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity, Elevated circulating crea... OMIM:603689
Legionnaires Disease
Hyponatremia, Respiratory insufficiency, Cough, Pulmonary infiltrates, Abnormal lung morphology, ... ORPHA:549
Radio-Renal Syndrome
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax ORPHA:3015
Lujo Hemorrhagic Fever
Ecchymosis, Crackles, Rhinitis, Respiratory distress, Purpura, Nonproductive cough, Metabolic aci... ORPHA:319213
Zygomycosis
Sinusitis, Ketoacidosis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute... ORPHA:73263
Leigh Syndrome With Leukodystrophy
Apnea, Acidosis, Increased serum lactate ORPHA:255241
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Increased level of L-glutamic acid in blood, Hyperammonemia OMIM:237310
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Generalized Pseudohypoaldosteronism Type 1
Wheezing, Hyponatremia, Hyperkalemia, Recurrent upper and lower respiratory tract infections, Cou... ORPHA:171876
Fructose-1,6-Bisphosphatase Deficiency
Apneic episodes in infancy, Neonatal hyperbilirubinemia, Intermittent lactic acidemia, Lactic aci... ORPHA:348
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Respiratory distress, Erythema, Upper airway obstruction ORPHA:100057
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Abnormal respiratory system physiology, Tachypnea, Pulmonary arteria... ORPHA:99106
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Respiratory distress, Abnormal pu... ORPHA:209905
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:613954
Congenitally Uncorrected Transposition Of The Great Arteries
Tachypnea, Hypoxemia, Cyanosis, Anomalous pulmonary venous return ORPHA:860
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress, Metabolic ketoacidosis, Hyperammonemia ORPHA:148
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Coenzyme Q10 Deficiency, Primary, 7
Increased serum lactate, Respiratory insufficiency OMIM:616276
Snakebite Envenomation
Ecchymosis, Hyponatremia, Angioedema, Epistaxis, Respiratory paralysis, Erythema, Respiratory fai... ORPHA:449285
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Increased serum lactate, Congenita... ORPHA:79243
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Cyanosis, Anomalous pulmonary ven... ORPHA:99104
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue, Hypertriglyceridemia ORPHA:363400
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Central hypoventilation, Apnea OMIM:618233
Complete Atrioventricular Septal Defect
Wheezing, Crackles, Tachypnea, Elevated pulmonary artery pressure, Pulmonary venous hypertension,... ORPHA:1329
Cystic Echinococcosis
Abnormal pulmonary thoracic imaging finding, Hyperbilirubinemia, Urticaria, Multiple pulmonary cy... ORPHA:400
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Recurrent respiratory infections, Death in infancy, Episodic respirator... OMIM:301790
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:75840
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Ketoacidosis, Respiratory alkalosis, Tachypnea, Increased serum lactate, Hyperalaninemia, Hyperam... OMIM:615751
Short-Rib Thoracic Dysplasia 12
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency, Atelectasis OMIM:269860
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Respiratory insufficiency, Pulmonary hypoplasia, Repeated pneumothoraces... ORPHA:536467
Benign Familial Neonatal Epilepsy
Apnea, Circumoral cyanosis ORPHA:1949
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Increased serum lactate, Recurrent lower respiratory tract infections, Hyperalan... OMIM:619170
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Increased serum lactate, Hyperglycinemia, Hyperalaninemia, Death... OMIM:619059
Arnold-Chiari Malformation Type Ii
Cyanosis, Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Pulmonary arterial hypertension, Aortopulmonary window, Anomalous origin of left pulmonary artery... ORPHA:99050
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Renal Dysplasia-Limb Defects Syndrome
Pneumothorax, Neonatal death, Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:266910
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased serum lactate OMIM:619196
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Cyanosis, Abnormal mucociliary clearance, Purp... ORPHA:90051
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating creatine kinase concentration, Respiratory distress, Recurrent respiratory i... ORPHA:329178
Combined Oxidative Phosphorylation Deficiency 39
Increased serum lactate OMIM:618397
Mitochondrial Complex I Deficiency, Nuclear Type 4
Metabolic acidosis, Apnea OMIM:618225
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Cyanosis... ORPHA:99103
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Lactic acidosis, Hyperammonemia, Elevated cir... ORPHA:26791
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Recurr... ORPHA:98915
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... ORPHA:1143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Elevated circulating creatine kinase concentration, Increased serum lactate, Respiratory insuffic... OMIM:616479
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Respiratory distress, Nonproductive cough, ... ORPHA:31204
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lactic acidosis, Respiratory insufficiency OMIM:618228
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Elevated circulating C-reactive protein concentration, Pulmonary fibrosis OMIM:612852
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Lactic acidosis OMIM:617184
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Elevated circulating creatine kinase concentration, Respiratory distress, Dyspnea, Cough ORPHA:86812
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency, Elevated creatine kinase after exercise, Elevat... ORPHA:159
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Abnormality of acid-base homeostasis, Hypomagnesemia... ORPHA:31824
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Combined Oxidative Phosphorylation Deficiency 16
Increased serum lactate OMIM:615395
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... ORPHA:98905
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy, Hyperammonemia ORPHA:1194
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Angioedema, Cough, Restrictive ventilatory defect, Dyspnea, Emphysema, Pleura... ORPHA:36412
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Respiratory failure, Tachypnea, Ventilator dependence with inability to wean, Inspiratory stridor OMIM:604320
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... ORPHA:79138
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis OMIM:618394
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Metabolic acidosis, Increased serum lactate OMIM:615158
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Neonatal respiratory distress, Respiratory acidosis, Erythema, Respiratory distress, Abnormal pul... OMIM:614748
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mitochondrial Complex I Deficiency, Nuclear Type 33
Metabolic acidosis, Respiratory insufficiency, Hyperammonemia OMIM:618253
Muscular Dystrophy, Duchenne Type
Respiratory failure, Hypoventilation, Respiratory insufficiency, Elevated circulating creatine ki... OMIM:310200
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Malignant Atrophic Papulosis
Respiratory failure, Telangiectasia of the skin, Pleural effusion ORPHA:679
Alg1-Cdg
Respiratory failure, Hypoalbuminemia ORPHA:79327
Gaucher Disease, Type I
Epistaxis, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pulmonary... OMIM:230800
Antisynthetase Syndrome
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Pulmonary arterial... ORPHA:81
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Metabolic acidosis, Hyperalaninemia ORPHA:2597
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Pulmonary arterial hypertension, Increased serum lactate, Hyperalaninemia, Hype... OMIM:619064
Hsd10 Disease, Infantile Type
Increased serum lactate, Hyperammonemia, Cyanosis, Metabolic acidosis, Lactic acidosis ORPHA:391428
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Respiratory ... ORPHA:1199
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased serum pyruvate, Increased serum lactate OMIM:614055
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Respiratory insufficiency, Increased serum lactate, Hyperalaninemia, Increased serum pyruvate, La... OMIM:617668
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency ORPHA:1145
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Death in infancy, Increased serum lactate, Increased total bilirubin, Metabolic acidosis, Jaundice OMIM:618528
Multiple Mitochondrial Dysfunctions Syndrome 5
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617613
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:276950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Hyponatremia OMIM:618426
Gaucher Disease, Perinatal Lethal
Petechiae, Neonatal death, Apnea, Respiratory distress, Purpura, Pulmonary hypoplasia OMIM:608013
Bronchial Neuroendocrine Tumor
Wheezing, Facial telangiectasia, Pneumonia, Dermatological manifestations of systemic disorders, ... ORPHA:97287
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary infiltrates, Pulmonary fib... ORPHA:220393
Congenital Enterovirus Infection
Respiratory distress, Hypoalbuminemia, Pleural effusion, Hyperammonemia ORPHA:292
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory failure, Hypercapnia, Respiratory insufficiency OMIM:267480
Breath-Holding Spells
Cyanosis OMIM:607578
Coenzyme Q10 Deficiency, Primary, 3
Increased serum lactate OMIM:614652
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Lactic acidosis, Increased serum lactate, Hyperalaninemia ORPHA:79246
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea OMIM:606071
Riboflavin Deficiency
Metabolic acidosis, Elevated circulating acylcarnitine concentration OMIM:615026
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Acrocyanosis, Increased blood urea nitrogen, Decre... OMIM:223900
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Combined Oxidative Phosphorylation Deficiency 45
Increased serum lactate OMIM:618951
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Increased serum lactate OMIM:545000
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Scimitar Syndrome
Bronchogenic cyst, Pneumothorax, Pulmonary sequestration, Pulmonary arterial hypertension, Pulmon... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 43
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:618851
Mitochondrial Complex I Deficiency, Nuclear Type 26
Metabolic acidosis, Increased serum lactate, Respiratory insufficiency OMIM:618247
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Acidosis ORPHA:289504
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Recurrent respiratory infections, Metabolic acidosis OMIM:264350
Combined Oxidative Phosphorylation Deficiency 3
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Increased serum la... OMIM:610505
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma free carnitine, Respiratory insufficiency, Elevated circulating long chain fatty... OMIM:608836
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating creatine kinase concentration, Respiratory distress, Telangiectasia OMIM:608799
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Death in childhood, Respiratory distress, Recurrent pneumo... OMIM:617303
Peripartum Cardiomyopathy
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... ORPHA:563
Netherton Syndrome
Urticaria, Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmona... OMIM:178600
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Death in infancy, Respiratory insufficiency, Hypokalemia, Hypophosphatemia, Increas... ORPHA:534
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 26
Exertional dyspnea, Increased serum lactate OMIM:616539
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Increased serum lactate, Hyperalaninemia, Hypoalbuminemia, Respiratory... OMIM:618329
Osteopetrosis, Autosomal Recessive 5
Respiratory failure, Hyperbilirubinemia, Stillbirth, Hypocalcemia OMIM:259720
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Ecchymosis, Pneumonia, Petechiae, Elevated circulating creatinine concentration, Ep... ORPHA:340
Fusariosis
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... ORPHA:228119
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Respiratory insufficiency, Tachypnea, Cough, Hypocalcemia, Abnor... OMIM:613658
Leigh Syndrome With Cardiomyopathy
Renal tubular acidosis, Apnea, Increased serum lactate, Respiratory distress, Central hypoventila... ORPHA:70474
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hyperglutaminemia, Hyperalaninemia, Acute hyperammonemia, Respiratory distress, Hyperammonemia ORPHA:927
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Amyotrophic Lateral Sclerosis
Respiratory failure, Dyspnea, Abnormal respiratory system physiology ORPHA:803
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Ele... ORPHA:496641
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Purpura, Cough, Respiratory insufficiency ORPHA:375
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Histiocytoid Cardiomyopathy
Tachypnea, Cough, Cyanosis, Pulmonary edema, Lactic acidosis ORPHA:137675
Acute Peripheral Arterial Occlusion
Acidosis ORPHA:90064
Combined Oxidative Phosphorylation Deficiency 15
Increased serum lactate OMIM:614947
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Combined Oxidative Phosphorylation Deficiency 10
Metabolic acidosis, Lactic acidosis, Increased serum lactate, Hyperalaninemia OMIM:614702
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bronchiectasis, Pulmonary arterial hypertension, Cough, Elevated bronchoalveolar lavag... OMIM:181000
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Respiratory insufficiency, Severe lactic acidosis, Apnea, Elevated lactate:pyru... OMIM:252010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hyperammonemia ORPHA:289916
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Severe lactic acidosis, Elevated circulating creatine kinase concentration, Increased serum lacta... OMIM:615418
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... ORPHA:2020
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617069
Unilateral Polymicrogyria
Cyanosis, Epistaxis, Apnea, Pulmonary arteriovenous malformation ORPHA:268943
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Mitochondrial Dna Depletion Syndrome 17
Death in childhood, Acidosis, Low plasma citrulline, Hyperammonemia OMIM:618567
Dermatomyositis
Respiratory insufficiency, Cutaneous photosensitivity, Lung adenocarcinoma, Pulmonary arterial hy... ORPHA:221
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Telangiectasia of the skin, Respiratory distress, Prematurely aged app... ORPHA:3342
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal Fanconi syndrome, Respiratory insufficiency due to muscle weakness, Increased serum lactate... OMIM:220110
Liver Failure, Infantile, Transient
Lactic acidosis, Increased serum lactate, Hyperbilirubinemia, Jaundice OMIM:613070
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Metabolic acidosis, Increased serum lactate OMIM:610090
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pulmonary arterial hypertension, Acrocyanosis, ... ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Lactic acidosis, Pulmonary arterial hypertension, Increased serum lactate OMIM:619272
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Respiratory insufficiency OMIM:273730
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Mitochondrial Complex I Deficiency, Nuclear Type 12
Increased serum lactate OMIM:301020
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketoacidosis, Episodic ketoacidosis, Increased serum lactate, Hyperammonemia, Lactic acidosis OMIM:615453
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Elevated circulating creatine kinase concentration, Cough, Res... ORPHA:90068
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased serum lactate, Respiratory distress, Inc... OMIM:274150
Tiglic Acidemia
Acidosis OMIM:275190
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Metabolic acid... OMIM:618183
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Bloom Syndrome
Telangiectasia, Chronic pulmonary obstruction, Cutaneous photosensitivity, Pneumonia, Rhinitis, R... ORPHA:125
Mitochondrial Complex I Deficiency, Nuclear Type 11
Metabolic acidosis, Increased serum lactate OMIM:618234
Cryptococcosis
Pneumonia, Cough, Respiratory distress, Nodular pattern on pulmonary HRCT, Dyspnea, Pleural effusion ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 31
Lactic acidosis, Increased serum lactate, Hyperalaninemia OMIM:617228
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Recurrent bronchitis, Purpura, Restrictive ventilatory defect, Recurre... ORPHA:1572
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Pulmonary edema OMIM:261740
Coenzyme Q10 Deficiency, Primary, 2
Cutis marmorata, Pulmonary arterial hypertension, Increased serum lactate OMIM:614651
Isolated Glycerol Kinase Deficiency
Elevated circulating creatine kinase concentration, Metabolic acidosis ORPHA:408
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hyperammonemia ORPHA:79312
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Angioedema, Erythema, Cough, Pulmonary infiltrates, Dyspnea ORPHA:139402
Toxic Epidermal Necrolysis
Erythema, Cough, Respiratory distress, Abnormal pleura morphology, Restrictive ventilatory defect... ORPHA:537
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformati... OMIM:610655
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Increased serum lactate OMIM:617070
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Increased serum lactate, Hyperalaninemia, Hyperammonemia, Metabo... OMIM:619051
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Dyspnea, Increased serum lactate ORPHA:1349
Beta-Ketothiolase Deficiency
Ketoacidosis, Tachypnea, Cough, Increased serum lactate, Hyperuricemia, Hyperammonemia, Metabolic... ORPHA:134
Glomerulopathy With Fibronectin Deposits 1
Acidosis OMIM:137950
Combined Oxidative Phosphorylation Deficiency 30
Lactic acidosis, Increased serum lactate, Hyperalaninemia OMIM:616974
Q Fever
Pneumonia, Cough, Respiratory distress, Abnormal pulmonary interstitial morphology, Purpura, Pleu... ORPHA:781
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Combined Oxidative Phosphorylation Deficiency 1
Metabolic acidosis, Elevated lactate:pyruvate ratio, Increased serum lactate OMIM:609060
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Lactic acidosis, Respiratory insufficiency OMIM:617021
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Lactic acidosis, Increased serum lactate OMIM:613561
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Dyspnea, Lactic acidosis, Increased serum lac... OMIM:255125
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy