Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Tmem38bem1(IMPC)Mbp HOM   Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ... ORPHA:70589
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys... OMIM:267450
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Respiratory failu... ORPHA:70587
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Ground-glass opacification, Neonatal death, Tachypnea, Paraseptal emphysema... OMIM:610921
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Meconium Aspiration Syndrome
Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Respiratory distress, Aspiration... ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... OMIM:265120
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... OMIM:263000
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Pleural effusion, Parenchymal consolidation, Elevat... ORPHA:2902
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuf... ORPHA:60032
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC... OMIM:610978
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Elevated circulating C-reactive protein con... OMIM:620321
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Exertional dyspne... ORPHA:254361
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, E... ORPHA:178320
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy... ORPHA:3348
Pneumocystosis
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Pleural ef... ORPHA:723
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Ground-glass opacification ORPHA:60026
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates ORPHA:64741
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Dyspnea, Respiratory fa... ORPHA:90117
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or... ORPHA:2032
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Elevated circulating carcinoembryonic antigen concent... ORPHA:264675
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrat... ORPHA:36238
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Adult Acute Respiratory Distress Syndrome
Pneumonia, Metabolic acidosis, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, ... ORPHA:70578
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... ORPHA:1302
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re... OMIM:610910
High Altitude Pulmonary Edema
Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia, Pulmonary opacity ORPHA:330012
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Lipoid pneumonia, Elevated circulating creatine kinase concentration, ... OMIM:620326
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Neonatal respiratory distress, Lactic acidosis, Metabolic acidosis, Neonata... OMIM:619003
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death OMIM:300219
Severe Acute Respiratory Syndrome
Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri... ORPHA:140896
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pleura morphology, Abnormal pattern of respiration, Pulmonary... ORPHA:724
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Combined Oxidative Phosphorylation Deficiency 8
Increased circulating lactate concentration, Lactic acidosis, Death in childhood, Metabolic acido... OMIM:614096
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Avian Influenza
Pneumonia, Hypoalbuminemia, Respiratory distress, Ground-glass opacification, Pleural effusion, P... ORPHA:454836
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Increased circulating lactate concentration, Respiratory distress, Lactic acidosis, Cyanosis, Met... ORPHA:91130
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Abnormal circulating pro... ORPHA:747
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Recurrent sinusitis, Chronic... OMIM:608647
Primary Ciliary Dyskinesia
Nasal polyposis, Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respirator... ORPHA:244
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d... ORPHA:254875
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Apnea, Cyanosis, Tachypnea, ... ORPHA:2257
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Chronic bronchitis, Panacinar emphysema, D... OMIM:613490
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Sarcoidosis, Susceptibility To, 2
Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnormal pu... OMIM:612387
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod... ORPHA:99931
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased circulating lactate concentration, Increased serum pyruvate, Neonatal respiratory distress OMIM:619062
Laryngotracheoesophageal Cleft
Dyspnea, Neonatal respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:2004
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... ORPHA:60025
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Bronchiolitis oblite... ORPHA:1303
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased circulating lactate concentration, Increased serum pyruvate, Resp... ORPHA:238329
Surfactant Metabolism Dysfunction, Pulmonary, 5
Intraalveolar phospholipid accumulation, Interlobular septal thickening, Ground-glass opacificati... OMIM:614370
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion, Cyanosis ORPHA:2414
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Hyposerinemia, Apnea, Death in infancy, Cyanotic episode OMIM:610992
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elev... OMIM:300717
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Death in infancy, Elevated circulating creatine kinase concentr... OMIM:613869
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:616867
Combined Oxidative Phosphorylation Deficiency 28
Increased circulating lactate concentration, Increased serum pyruvate, Respiratory failure, Sever... OMIM:616794
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity ORPHA:411703
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased circulating lactate concentration, Chronic lactic acidosis, Lactic acidosis, Metabolic ... OMIM:312170
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Ciliary Dyskinesia, Primary, 1
Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei... OMIM:244400
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis, Respiratory insufficiency ORPHA:1164
Slc35A1-Cdg
Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Nephronophthisis 2
Respiratory insufficiency, Elevated circulating creatinine concentration, Hyperkalemic metabolic ... OMIM:602088
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Elevated circulating... OMIM:616414
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Diffuse reticul... OMIM:607616
Glycine Encephalopathy 2
Respiratory failure, Nonketotic hyperglycinemia OMIM:620398
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased circulating lactate concentration, Recurrent respiratory infections, Hyperglycinemia OMIM:619063
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Respira... OMIM:178550
Developmental And Epileptic Encephalopathy 71
Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, Apnea, Death in infancy, Respiratory insuffic... OMIM:618414
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Elevated circulating creatinine concentration, Pulmonary hypoplasia OMIM:616733
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis, Generalized abnormality of skin ORPHA:2314
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory insufficiency, Respiratory... ORPHA:333
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Increased circulating lactate concentration, Apnea, Respiratory failure, Death in infancy OMIM:616277
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Unconjugated hyperbilirubi... OMIM:618278
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Combined Oxidative Phosphorylation Deficiency 52
Increased circulating lactate concentration, Hyperglycinemia, Hyperamylasemia, Metabolic acidosis... OMIM:619386
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Respiratory failure, Elevated circulating creati... OMIM:614399
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib... OMIM:178500
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea, Respiratory failure ORPHA:2759
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l... ORPHA:258
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Lactic acidosis, Hyperglycinemia, Death... OMIM:245400
Hypophosphatasia
Emphysema, Hypercalcemia, Respiratory insufficiency ORPHA:436
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 30
Increased circulating lactate concentration, Respiratory distress, Lactic acidosis, Death in infa... OMIM:616974
Fanconi Renotubular Syndrome 5
Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis, H... OMIM:618913
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Ground-glass opacification,... ORPHA:133
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Cyanosis, Death in childhoo... OMIM:618426
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary capillary hemangio... OMIM:234810
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia, Pleural effusion, Pulmonary ed... ORPHA:542323
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Hypokalemia, Dyspnea, Respiratory failure ORPHA:330021
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Scedosporiosis
Pneumonia, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis, Pleuritis, Respiratory failu... ORPHA:449280
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... ORPHA:91359
Lujo Hemorrhagic Fever
Atelectasis, Respiratory distress, Metabolic acidosis, Ecchymosis, Elevated circulating C-reactiv... ORPHA:319213
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:266
Mhc Class I Deficiency 1
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis OMIM:604571
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection, Metabolic acidosis OMIM:619445
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Severe lactic acidosis, Decreased circulating carnitine concentration, Respiratory distress, Vent... ORPHA:254864
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... ORPHA:538
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ... OMIM:618042
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:616209
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Recurrent acute respiratory tract infection, Paradoxical respiration OMIM:620011
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis ORPHA:137914
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Respiratory distress, Absent inner and outer dynein arms, Recurrent respiratory ... OMIM:606763
Glycogen Storage Disease Due To Acid Maltase Deficiency
Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevat... ORPHA:365
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death OMIM:301021
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Mitochondrial Complex I Deficiency, Nuclear Type 33
Increased circulating lactate concentration, Aspiration pneumonia, Respiratory insufficiency, Apn... OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Recurrent lower respiratory tract infections, Increased circulating lactate conc... OMIM:619170
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu... ORPHA:217563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Elevated circulatin... ORPHA:308552
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Elevated circulating creatinine concentration, Pulmonary infiltrates,... ORPHA:90060
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Lactic acidosis, Hyperglycinemia, Metabolic acidosis, Respiratory fail... OMIM:615330
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Malignant Hyperthermia, Susceptibility To, 4
Acidosis OMIM:600467
Intellectual Developmental Disorder, Autosomal Recessive 1
Increased circulating lactate concentration OMIM:249500
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Mitochondrial Complex I Deficiency, Nuclear Type 24
Increased circulating lactate concentration OMIM:618245
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... ORPHA:3392
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory distress, Lactic acidosis, Hyperglycinemia, Death in infan... OMIM:614299
Spasticity, Childhood-Onset, With Hyperglycinemia
Increased circulating lactate concentration, Hyperglycinemia OMIM:616859
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:611890
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas... OMIM:613177
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Combined Oxidative Phosphorylation Deficiency 44
Increased circulating lactate concentration OMIM:618855
Multiple Acyl-Coa Dehydrogenase Deficiency
Acidosis, Elevated circulating glutaric acid concentration, Respiratory distress, Neonatal death,... OMIM:231680
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased circulating lactate concentration, Increased serum pyruvate, Lact... OMIM:614741
Cholera
Acidosis, Aspiration pneumonia, Lactic acidosis, Hypocalcemia, Hypokalemia, Hyponatremia, Tachypn... ORPHA:173
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Increased circulating lactate concentration, Recurrent upper respiratory tract infections, Hypera... OMIM:620137
Ethylene Glycol Poisoning
Elevated serum anion gap, Abnormal pattern of respiration, Lactic acidosis, Hypocalcemia, Cyanosi... ORPHA:31826
Larsen-Like Syndrome, Lethal Type
Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia OMIM:245650
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Increased circulating lactate concentration, Abnormal ... OMIM:620306
Leigh Syndrome, Nuclear
Increased circulating lactate concentration, Abnormal pattern of respiration, Respiratory insuffi... OMIM:256000
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Metabolic acidosis, Hypoventilation, Recurrent infections due to a... ORPHA:70
Congenital Heart Block
Pleural effusion, Cyanosis ORPHA:60041
Congenital Tricuspid Valve Dysplasia
Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respirato... ORPHA:555874
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased circulating lactate concentration, Respiratory insufficiency, Lactic acidosis, Hypergly... OMIM:605711
Combined Oxidative Phosphorylation Deficiency 10
Increased circulating lactate concentration, Lactic acidosis, Pleural effusion, Hyperammonemia, M... OMIM:614702
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Increased circulating lactate concentration, Ab... OMIM:615838
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Combined Oxidative Phosphorylation Deficiency 4
Increased circulating lactate concentration, Lactic acidosis, Hyperammonemia, Metabolic acidosis,... OMIM:610678
Congenital Myopathy 10B, Mild Variant
Recurrent pneumonia, Mildly elevated creatine kinase, Abnormal circulating creatine kinase concen... OMIM:620249
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure, Increased total bilirubin ORPHA:890
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis ORPHA:99825
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration, Metabolic acidosis ORPHA:26792
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Increased circulating free fatty acid level, Respiratory distress, Episodic tachypnea,... ORPHA:26793
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Combined Oxidative Phosphorylation Deficiency 16
Increased circulating lactate concentration, Death in infancy OMIM:615395
Acquired Methemoglobinemia
Acidosis, Respiratory distress, Cyanosis, Dyspnea, Hypoxemia ORPHA:464453
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility ORPHA:3226
Brown-Vialetto-Van Laere Syndrome 1
Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D... OMIM:211530
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Increased circulating lactate concentration, Lactic acidosis, Respiratory i... OMIM:613561
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Combined Oxidative Phosphorylation Deficiency 6
Increased circulating lactate concentration, Increased serum pyruvate, Respiratory insufficiency ... OMIM:300816
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Succinic Acidemia
Respiratory distress, Lactic acidosis OMIM:600335
Congenital Myasthenic Syndrome
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Intermittent episodes of respiratory insufficiency due to muscle weakness, Cyanosis, Episodic res... ORPHA:98914
Short-Rib Thoracic Dysplasia 12
Neonatal death, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia OMIM:269860
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Pleural empyema ORPHA:2038
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Bruising susceptibility, Atelectasis, Respiratory insufficiency, Respiratory distress, Repeated p... ORPHA:536467
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Increased circulating lactate concentration, Lactic acidosis, Respiratory failure, Metabolic acid... ORPHA:70472
Lethal Congenital Contracture Syndrome 8
Death in infancy, Neonatal death OMIM:616287
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Respiratory insufficiency, Lactic acidosis, Hyperammonem... OMIM:615486
Mitochondrial Complex I Deficiency, Nuclear Type 13
Acidosis, Decreased circulating carnitine concentration, Apnea, Death in infancy, Metabolic acidosis OMIM:618235
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:370968
Double Outlet Right Ventricle
Cyanosis, Pulmonary artery atresia, Tachypnea, Hypocalcemia ORPHA:3426
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Exertional dyspnea, Orthopnea, Cyanosis ORPHA:98913
Hyperekplexia 4
Respiratory failure, Abnormal circulating acylcarnitine concentration OMIM:618011
3-Methylglutaconic Aciduria Type 7
Increased circulating lactate concentration, Pneumothorax, Respiratory failure ORPHA:445038
Glutamine Deficiency, Congenital
Erythema, Neonatal respiratory distress, Apnea, Hyperammonemia, Neonatal death, Hypoglutaminemia,... OMIM:610015
Alpha-1-Antitrypsin Deficiency
Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Emphysema, Jaundice, Bronchiec... ORPHA:60
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia ORPHA:3309
Mitochondrial Phosphate Carrier Deficiency
Lactic acidosis, Cyanosis, Metabolic acidosis, Respiratory insufficiency OMIM:610773
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Elevated circulating creatine kinase c... ORPHA:168486
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Respiratory distress, Death in childhood, Death in infancy, Respiratory failure OMIM:620278
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Neonatal asphyxia, Bronchitis, Recurrent sinusitis, Tel... ORPHA:420741
Immunoneurologic Disorder, X-Linked
Neonatal death OMIM:300076
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... OMIM:233450
Benign Familial Infantile Epilepsy
Apnea, Cyanosis ORPHA:306
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Cyanosis, Lactic acidosis, Paroxysmal dyspnea ORPHA:444013
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Increased circulating lactate concentration OMIM:619196
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia OMIM:184260
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Lymphatic Malformation 12
Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren... OMIM:620014
Relapsing Polychondritis
Erythema, Atelectasis, Abnormal pattern of respiration, Dyspnea, Purpura ORPHA:728
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Tachypnea, Intraalveolar phospholipid accumulation OMIM:300770
Radio-Renal Syndrome
Chylothorax, Respiratory distress, Pleural effusion, Dyspnea, Respiratory failure ORPHA:3015
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Hypomethioninemia, Hyperhomocystinemia, Jaundice, Respiratory failure OMIM:250940
Mitochondrial Complex I Deficiency, Nuclear Type 3
Death in childhood, Metabolic acidosis, Respiratory insufficiency OMIM:618224
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Death in infancy, Elevated circulating creat... OMIM:615042
Zygomycosis
Ketoacidosis, Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pn... ORPHA:73263
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Death in infancy, Neonatal death OMIM:617184
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 6
Increased circulating lactate concentration, Respiratory insufficiency, Apnea, Lactic acidosis, M... OMIM:618228
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Mitochondrial Complex I Deficiency, Nuclear Type 18
Lactic acidosis, Respiratory failure, Death in infancy OMIM:618240
Combined Oxidative Phosphorylation Deficiency 11
Increased circulating lactate concentration, Lactic acidosis, Renal tubular acidosis, Death in ch... OMIM:614922
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Acrocyanosis ORPHA:1867
Pyruvate Dehydrogenase E1-Alpha Deficiency
Congenital lactic acidosis, Increased circulating lactate concentration, Neonatal respiratory dis... ORPHA:79243
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Metabolic acidosis OMIM:264350
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death OMIM:619602
Congenital Tracheal Stenosis
Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona... ORPHA:141127
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory insufficiency, Respiratory distress, Abnormal circulating creatine kinase concentrati... OMIM:620375
Hypoadrenocorticism, Familial
Hyponatremia, Apnea, Hyperkalemia, Cyanosis OMIM:240200
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Increased circulating lactate concentration, Respiratory distress, El... ORPHA:36234
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Abnormal pleura ... ORPHA:183
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased circulating lactate concentration, Respiratory insufficiency, Lactic acidosis, Death in... OMIM:617668
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in childhood, Death in infancy, Neonatal death OMIM:620265
Malaria
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased circulating lactate concentration, Elevated circulating sebacic acid concentration, Ele... OMIM:615160
Developmental And Epileptic Encephalopathy 53
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:617389
Hsd10 Disease, Infantile Type
Increased circulating lactate concentration, Lactic acidosis, Cyanosis, Hyperammonemia, Metabolic... ORPHA:391428
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Dyspnea, Abnormal pleura morphology, Pulmonary fibrosis, Increased circulating ferritin concentra... ORPHA:210136
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Hereditary Methemoglobinemia
Exertional dyspnea, Cyanosis ORPHA:621
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Elevated circulat... ORPHA:352447
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Lactic acidosis, Severe lactic acidosis OMIM:612075
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Increased circulating lactate concentration, Apnea, Metabolic acidosis, Respiratory insufficiency OMIM:617290
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased circulating lactate concentration, Mildly elevated creatine kinase ORPHA:457050
Combined Oxidative Phosphorylation Deficiency 9
Increased circulating lactate concentration, Elevated serum anion gap, Ketoacidosis, Death in chi... OMIM:614582
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Respiratory failure ORPHA:98905
Combined Oxidative Phosphorylation Deficiency 43
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:618851
Combined Oxidative Phosphorylation Deficiency 3
Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Respiratory insuffi... OMIM:610505
Multiple Mitochondrial Dysfunctions Syndrome 5
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:617613
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased circulating lactate concentration, Hypomagnesemia, Respiratory insufficiency, Hyperuric... OMIM:613845
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci... ORPHA:980
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte... ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Apnea, Death in childhood, Metabolic acidosis, Incre... OMIM:618225
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Cyanosis, Pulmonary hypoplasia OMIM:619879
Chand Syndrome
Atelectasis ORPHA:1401
Mitochondrial Complex I Deficiency, Nuclear Type 15
Increased circulating lactate concentration, Metabolic acidosis, Neonatal death OMIM:618237
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Petechiae, Death in infancy... OMIM:602473
Mitochondrial Myopathy, Infantile, Transient
Increased circulating lactate concentration, Decreased circulating carnitine concentration, Lacti... OMIM:500009
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased circulating lactate concentration, Respiratory distress, Lactic acidosis, Death in chil... OMIM:220110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis, Premature graying of hair OMIM:620365
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia OMIM:620371
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased circulating lactate concentration, Respiratory distress, Lactic acidosis, Death in infa... OMIM:604377
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death OMIM:612138
Oculocerebrorenal Syndrome Of Lowe
Increased circulating lactate concentration, Atelectasis, Respiratory insufficiency, Death in inf... ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 34
Lactic acidosis, Metabolic acidosis, Respiratory failure requiring assisted ventilation OMIM:618776
Geleophysic Dysplasia 3
Dyspnea, Pneumonia, Respiratory failure OMIM:617809
Acetyl-Coa Acetyltransferase-2 Deficiency
Increased circulating lactate concentration, Increased serum pyruvate OMIM:614055
Lymphoid Interstitial Pneumonia
Centrilobular ground-glass opacification on pulmonary HRCT, Subpleural interstitial thickening, G... ORPHA:79128
Breath-Holding Spells
Cyanosis OMIM:607578
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Dyspnea, Respiratory failure, Hypercapnia, Respiratory fa... ORPHA:79138
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Apnea, Cyanosis, Lactic acidosis OMIM:261680
Combined Oxidative Phosphorylation Deficiency 38
Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Respiratory insuff... OMIM:618378
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Dihydrolipoamide Dehydrogenase Deficiency
Ketoacidosis, Lactic acidosis, Death in childhood, Metabolic acidosis, Increased serum pyruvate OMIM:246900
Pyruvate Dehydrogenase Phosphatase Deficiency
Hyperprolinemia, Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia ORPHA:79246
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis, Elevated circulating C-reactive protein concentration OMIM:612852
Ichthyosis, Congenital, Autosomal Recessive 4B
Death in infancy, Neonatal death OMIM:242500
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Elevated circulating creatine kinase conc... ORPHA:329178
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis, R... ORPHA:31204
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased circulating lactate concentration, Increased serum pyruvate OMIM:545000
Cutis Laxa, Autosomal Dominant 1
Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,... OMIM:123700
Necrotizing Enterocolitis
Acidosis, Increased circulating lactate concentration, Apnea, Cyanosis, Metabolic acidosis, Hypon... ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 45
Increased circulating lactate concentration OMIM:618951
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia, Erythema, Neonatal respiratory distress, Respiratory distress, Respiratory acido... OMIM:614748
Ullrich Congenital Muscular Dystrophy
Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:75840
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:26791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Increased total bilirubin, Respiratory insufficiency, Elevated cir... OMIM:608836
Oxoglutarate Dehydrogenase Deficiency
Congenital lactic acidosis, Increased circulating lactate concentration, Death in childhood, Meta... OMIM:203740
Combined Malonic And Methylmalonic Acidemia
Acidosis, Ketoacidosis, Dicarboxylic acidemia, Methylmalonic acidemia ORPHA:289504
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Respiratory distress, Episodic tachypnea, Intermittent lactic acidem... ORPHA:348
Isovaleric Acidemia
Metabolic acidosis ORPHA:33
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return ORPHA:99104
Hypocomplementemic Urticarial Vasculitis
Dyspnea, Pleural effusion, Emphysema, Angioedema ORPHA:36412
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency due to muscle we... ORPHA:1143
Atrial Septal Defect, Ostium Primum Type
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... ORPHA:99106
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ... ORPHA:98915
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Elevated lactate:pyruvate ratio, Increased circulating lactate concentration, Lactic acidosis, Se... OMIM:616111
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Metabolic acidosis ORPHA:2597
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Increased circulating lactate concentration, Mildly elevated creatine kinase, Respiratory insuffi... ORPHA:663
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Increased circulating lactate concentration, Decreased plasma free carnitine, Apnea, Metabolic ac... OMIM:619048
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue, Hypertriglyceridemia ORPHA:363400
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Increased circulating lactate concentration, Metabolic acidosis OMIM:615158
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Acetyl-Coa Carboxylase-Alpha Deficiency
Increased circulating lactate concentration OMIM:613933
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia OMIM:608022
Mitochondrial Complex I Deficiency, Nuclear Type 5
Increased circulating lactate concentration, Respiratory insufficiency, Apnea, Lactic acidosis, M... OMIM:618226
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Elevated circulating C-reactive protein concentration, Recur... OMIM:619632
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Cardiomyopathy, Dilated, 2C
Increased circulating lactate concentration, Death in childhood, Death in infancy OMIM:618189
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:620166
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Elevated circulating creatinine concentration, Cyanosi... OMIM:617478
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:159
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Cardiomyopathy, Dilated, 2H
Neonatal death OMIM:620203
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Respiratory insufficiency, Emphysema, Hypocalce... OMIM:613658
Mitochondrial Myopathy With Lactic Acidosis
Increased circulating lactate concentration, Increased serum pyruvate, Elevated serum anion gap, ... OMIM:251950
Mitochondrial Dna Depletion Syndrome 17
Acidosis, Low plasma citrulline, Hyperammonemia, Death in childhood OMIM:618567
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia OMIM:608013
Mitochondrial Complex I Deficiency, Nuclear Type 14
Increased circulating lactate concentration, Apnea, Lactic acidosis OMIM:618236
N-Acetylglutamate Synthase Deficiency
Alkalosis, Respiratory distress, Hyperammonemia, Hyperglutamatemia, Tachypnea, Low plasma citrull... OMIM:237310
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema OMIM:261740
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Increased circulating lactate concentration, Metabolic acidosis OMIM:610090
Snakebite Envenomation
Erythema, Angioedema, Ecchymosis, Hyponatremia, Respiratory failure ORPHA:449285
Netherton Syndrome
Emphysema, Recurrent respiratory infections, Urticaria ORPHA:634
Colchicine Poisoning
Cardiorespiratory arrest, Hypomagnesemia, Respiratory distress, Lactic acidosis, Hypocalcemia, Me... ORPHA:31824
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Increased circulating lactate concentration, Lactic acidosis, Death in childhood, Bradypnea, Resp... OMIM:617186
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death OMIM:614870
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Acute Peripheral Arterial Occlusion
Acidosis ORPHA:90064
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Nocturnal hypoventilation, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:603689
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Malignant Atrophic Papulosis
Telangiectasia of the skin, Pleural effusion, Respiratory failure ORPHA:679
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:617069
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Increased circulating lactate concentration, Hyperalaninemia, Neonatal death OMIM:615918
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hyperammonemia, Hypoalbuminemia ORPHA:292
Lipoyltransferase 1 Deficiency
Increased circulating lactate concentration, Increased total bilirubin, Lactic acidosis, Death in... OMIM:616299
Arterial Tortuosity Syndrome
Cardiorespiratory arrest, Respiratory distress, Pulmonary artery stenosis, Telangiectasia of the ... ORPHA:3342
Neuropathy, Congenital Hypomyelinating, 3
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:618186
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:606612
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Isolated Glycerol Kinase Deficiency
Metabolic acidosis, Elevated circulating creatine kinase concentration ORPHA:408
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Hyperglycinemia, Cyanotic episode ORPHA:284417
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:613954
Alg1-Cdg
Hypoalbuminemia, Respiratory failure ORPHA:79327
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Respiratory failure, Ele... ORPHA:496641
Familial Dysautonomia
Hyponatremia, Abnormal pleura morphology, Acrocyanosis, Recurrent respiratory infections ORPHA:1764
Mitochondrial Complex I Deficiency, Nuclear Type 23
Increased circulating lactate concentration OMIM:618244
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Recurrent pneumonia, Respiratory distress, Death in childhood, Recurrent broncho... OMIM:617303
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Hyperphosphatemia, Respiratory distress, Elevated circulating creatinine concentration... ORPHA:340
Esophageal Atresia
Bronchitis, Respiratory distress, Cyanosis, Episodic respiratory distress, Recurrent respiratory ... ORPHA:1199
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Metabolic acidosis, Hypokalemia, Hyp... OMIM:604278
Pseudo-Torch Syndrome 2
Respiratory insufficiency, Lactic acidosis, Pleural effusion, Petechiae, Acute respiratory distre... OMIM:617397
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Increased circulating lactate concentration, Elevated circulating creatine kinase concentration OMIM:617070
Glomerulopathy With Fibronectin Deposits 1
Acidosis OMIM:137950
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Central cyanosis OMIM:620067
Sepsis In Premature Infants
Cyanosis, Metabolic acidosis, Petechiae, Elevated circulating C-reactive protein concentration, D... ORPHA:90051
Joubert Syndrome 21
Dyspnea, Apnea, Respiratory failure, Pulmonary hypoplasia OMIM:615636
Mitochondrial Complex I Deficiency, Nuclear Type 8
Increased circulating lactate concentration, Lactic acidosis, Respiratory insufficiency OMIM:618230
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Increased circulating lactate concentration, Ketoacidosis, Respiratory alkalosi... OMIM:615751
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Combined Oxidative Phosphorylation Deficiency 2
Increased circulating lactate concentration, Lactic acidosis, Neonatal death OMIM:610498
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Tachypnea, Respiratory failure OMIM:604320
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Increased circulating lactate concentration, Hyperalaninemia, Respiratory failure, Death in child... OMIM:619847
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypocalc... OMIM:607143
Mitochondrial Complex I Deficiency, Nuclear Type 1
Severe lactic acidosis, Respiratory insufficiency, Apnea, Lactic acidosis, Cyanosis, Death in inf... OMIM:252010
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Cerebrooculofacioskeletal Syndrome 1
Recurrent pneumonia, Death in childhood, Metabolic acidosis OMIM:214150
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat... OMIM:615512
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Recurrent upper respiratory tract infections, Hypomagnesemia, Pleural effusion, ... OMIM:618183
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating acylcarnitine concentration, Respiratory insufficiency, Lactic acidosis, Hyp... OMIM:609015
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... OMIM:616749
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 1
Increased circulating lactate concentration, Metabolic acidosis, Elevated lactate:pyruvate ratio OMIM:609060
Histiocytoid Cardiomyopathy
Pulmonary edema, Tachypnea, Lactic acidosis, Cyanosis ORPHA:137675
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased circulating lactate concentration, Lactic acidosis, Metabolic acidosis, Death in infanc... OMIM:619046
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Hyperammonemia, Death in infancy ORPHA:1194
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency ORPHA:1145
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Increased circulating lactate concentration OMIM:616271
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Elevated circulating creatine kinase concentration ORPHA:86812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Hypoalbuminemia, Hypomagnesemia, Respiratory distress, Interstitial pneumonitis, Hypoc... ORPHA:37042
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Acrocyanos... OMIM:223900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Neonatal death, Palmoplantar cutis laxa, Central apnea, Respiratory failure OMIM:616482
Generalized Pseudohypoaldosteronism Type 1
Metabolic acidosis, Hyponatremia, Recurrent upper and lower respiratory tract infections, Hyperka... ORPHA:171876
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Coenzyme Q10 Deficiency, Primary, 5
Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia, Respiratory insuff... OMIM:614654
Multiple Mitochondrial Dysfunctions Syndrome 7
Apnea, Hyperglycinemia, Cyanosis, Metabolic acidosis, Hypernatremia, Respiratory failure requirin... OMIM:620423
Perrault Syndrome 5
Increased circulating lactate concentration, Increased serum pyruvate, Elevated circulating creat... OMIM:616138
Double Outlet Left Ventricle
Pulmonary artery stenosis, Tachypnea, Cyanosis ORPHA:3427
Isolated Atp Synthase Deficiency
Respiratory distress, Lactic acidosis, Hyperalaninemia, Hyperammonemia ORPHA:254913
2,4-Dienoyl-Coa Reductase Deficiency
Increased circulating lactate concentration, Elevated circulating 2-trans,4-cis-decadienoylcarnit... OMIM:616034
Unilateral Polymicrogyria
Apnea, Cyanosis, Pulmonary arteriovenous malformation ORPHA:268943
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Increased circulating lactate concentration, Lactic acidosis, Hyperglycinemia, Death in adolescen... OMIM:619059
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne... ORPHA:2020
Pontocerebellar Hypoplasia Type 1
Respiratory failure ORPHA:2254
Ethylmalonic Encephalopathy
Lactic acidosis, Acrocyanosis, Petechiae ORPHA:51188
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis OMIM:245349
22Q11.2 Deletion Syndrome
Purpura, Hypocalcemia, Atelectasis, Abnormal lung lobation ORPHA:567
Coenzyme Q10 Deficiency, Primary, 7
Increased circulating lactate concentration, Respiratory insufficiency OMIM:616276
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia, Elevated circulating creatine kinase concentration OMIM:608799
Hsd10 Disease, Neonatal Type
Lactic acidosis, Metabolic acidosis ORPHA:391457
Sengers Syndrome
Increased circulating lactate concentration, Exercise-induced lactic acidemia, Lactic acidosis, R... OMIM:212350
Coenzyme Q10 Deficiency, Primary, 4
Increased circulating lactate concentration, Lactic acidosis, Elevated lactate:pyruvate ratio OMIM:612016
Cardiogenic Shock
Increased circulating lactate concentration, Elevated circulating creatinine concentration, Cyano... ORPHA:97292
Mitochondrial Complex I Deficiency, Nuclear Type 26
Respiratory insufficiency, Increased circulating lactate concentration, Metabolic acidosis, Eleva... OMIM:618247
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Increased circulating lactate concentration, Abnormal circulating pyruvate family amino acid conc... ORPHA:255182
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Pontocerebellar Hypoplasia, Type 6
Increased circulating lactate concentration, Apnea, Death in childhood OMIM:611523
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Telangiectasia, Cutaneous photosensitivity, R... ORPHA:125
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Respiratory distress, Pneumothorax, Fragile skin, Dyspnea, Abnormal blood ion concentr... ORPHA:79404
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Increased circulating lactate concentration, Respiratory insufficiency, Lactic a... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 39
Increased circulating lactate concentration, Recurrent respiratory infections, Death in childhood OMIM:618397
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:100800
Mogs-Cdg
Respiratory distress, Pulmonary edema, Apnea, Hypoventilation ORPHA:79330
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis OMIM:250800
Tarp Syndrome
Apnea, Cyanosis, Pulmonary hypoplasia ORPHA:2886
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect... ORPHA:1572
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Hyperalaninemia ORPHA:927
3-Methylglutaconic Aciduria, Type Viii
Increased circulating lactate concentration, Hypopnea, Apnea, Death in infancy, Neonatal death, R... OMIM:617248
Combined Oxidative Phosphorylation Deficiency 31
Increased circulating lactate concentration, Lactic acidosis, Hyperalaninemia OMIM:617228
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Poor wound healing, Recurrent respiratory infect... OMIM:219100
Muscular Dystrophy, Duchenne Type