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Gene: Wfdc2 MGI:1914951

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Gene Summary

Name:
WAP four-disulfide core domain 2
Synonyms:
WAP5,  1600023A02Rik,  HE4

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Wfdc2em1(IMPC)H HET Early adult 0.00
increased circulating amylase level Wfdc2em1(IMPC)H HET Early adult 1.31×10-07
preweaning lethality, incomplete penetrance Wfdc2em1(IMPC)H HOM   Early adult 0.00

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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.

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MicroCT E14.5-E15.5

Embryo reconstruction

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MicroCT E18.5

Embryo reconstruction

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Wfdc2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Wfdc2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ethanolaminosis
Cardiomegaly OMIM:227150
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Elevated circulating C-reactive protein concentratio... ORPHA:79126
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Ground-... OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Ciliary Dyskinesia, Primary, 18
Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein arms, Decreased nasa... OMIM:614874
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Ciliary Dyskinesia, Primary, 50
Absent inner dynein arms, Coiled sperm flagella, Chronic bronchitis, Short sperm flagella, Chroni... OMIM:620356
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Elevated circulating C-reactive protein co... ORPHA:2902
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Urticaria, Ciliary dyskinesia, Hypohidrotic ectodermal dysplasia, Abnormal respiratory motile cil... OMIM:225050
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells OMIM:604809
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... ORPHA:1302
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema ORPHA:70578
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Coiled sperm flagell... OMIM:618433
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Placental Insufficiency
Hypoxemia, Abnormal lung morphology, Miscarriage ORPHA:439167
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... ORPHA:254361
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp... ORPHA:199241
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... ORPHA:36238
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... OMIM:616414
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis, Coarctation of aorta ORPHA:1209
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency, Coarctation of aorta OMIM:601612
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Productive c... ORPHA:454836
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Facial erythema, Abnormality of the pul... ORPHA:284227
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Immunodeficiency 104
Eczema, Pneumonia, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Neonatal ... OMIM:300219
Immunodeficiency 48
Recurrent respiratory infections, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatitis, Ulcerative... OMIM:617638
Aspergillosis
Sinusitis, Diffuse reticular or finely nodular infiltrations, Cough, Infectious encephalitis, Chr... ORPHA:1163
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Bronchiectasi... ORPHA:79128
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneumonia, Erythema... ORPHA:3392
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Livedo, Decreased circulating total... OMIM:615139
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:607616
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency ORPHA:238329
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Atelectasis, Increased circul... ORPHA:2314
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Microlissencephaly
Pneumonia ORPHA:1083
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Scedosporiosis
Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost... ORPHA:449280
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Malaria
Respiratory distress, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Conjunctivitis, ... OMIM:607594
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... OMIM:614399
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough ORPHA:142
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... ORPHA:2038
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Abnormal aortic arch morphology, Aortopulmonary windo... ORPHA:99050
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300400
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormality of the pulmonary artery ORPHA:1354
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Succinic Acidemia
Respiratory distress OMIM:600335
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Decreased circulating c... ORPHA:254864
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Pulmonary infiltrates, ... OMIM:209950
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Bronchiectasis, Recurrent sinusitis, Recurrent lower respiratory tract infe... OMIM:620282
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Immunodeficiency 13
Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizin... OMIM:615518
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Primary Effusion Lymphoma
Dyspnea, Pleural effusion ORPHA:48686
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Erythema, Myoca... ORPHA:728
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoplastic aortic arch, Tachypnea, Abnormal aortic arch morphology, Anomalous pulmonar... ORPHA:860
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Breath-Holding Spells
Cyanosis OMIM:607578
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Elevated circulating C-reacti... ORPHA:319213
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased specific antibody resp... OMIM:241600
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia, Cyanosis, Apnea OMIM:240200
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... ORPHA:397596
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula... OMIM:614742
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration ORPHA:2847
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... OMIM:616576
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ascending aorta hypoplasia, Neonatal asphyxia, Abnormal lung morp... ORPHA:141127
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Increased c... OMIM:615513
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia ORPHA:464370
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:619003
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Recurrent intrapulmonary h... ORPHA:183
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating acylcarnitine concentration ORPHA:26792
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Nephritis, I... ORPHA:73263
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles ORPHA:60041
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Abnormal mitochondrial shape, Respiratory insufficiency OMIM:610773
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Immunodeficiency 62
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:618459
Fusariosis
Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Productive cough, Maculopapular exanthem... ORPHA:228119
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Goodpasture Syndrome
Cyanosis, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacifica... OMIM:233450
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperglutamatemia, Hyperammonemia OMIM:237310
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Atelectasis, Lymphadeniti... OMIM:306400
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased circul... OMIM:614878
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia OMIM:266265
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn... ORPHA:980
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Increased serum pyruvate OMIM:614741
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... OMIM:193670
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Pulmonary infiltrates, De... OMIM:618394
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Hypoalbuminemia, Abnormal... OMIM:226990
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... ORPHA:436159
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Increased circulating IgG level, Increased circulating IgM level, Recurrent otiti... OMIM:619220
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Respiratory insufficiency, Abnormal aortic morphology ORPHA:1166
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen... ORPHA:420741
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent otitis media,... OMIM:240500
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... ORPHA:505395
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Elevated circulating creatine kinase concent... OMIM:615042
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Waardenburg Syndrome Type 2
Premature graying of hair, Abnormality of the pulmonary artery ORPHA:895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Elevated circulating creatine kinase ... ORPHA:26793
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori... ORPHA:183675
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circulating antibody level, Ot... ORPHA:169160
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Elevated circulating creatine kinase concentration, Cough ORPHA:86812
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Acrocyanosis, Pneumonia ORPHA:1867
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Double Outlet Right Ventricle
Pulmonary artery atresia, Tachypnea, Cyanosis, Coarctation of aorta ORPHA:3426
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, C... ORPHA:37042
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... ORPHA:1143
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Atrophic gastritis, Pneumonia, Erythema nodosum, Asthma, Recurr... OMIM:614700
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ... ORPHA:365
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... ORPHA:3309
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure ORPHA:330021
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Elevated circulating acylcarnitine concentration, Respiratory in... ORPHA:159
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Dyspnea, Angioedema, Erythema, Myocarditis, Hepatitis, Erythroderma, Thyroidi... ORPHA:139402
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Decreased circulating antibody level... ORPHA:1572
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne... OMIM:618282
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea, Cyanosis ORPHA:444013
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentra... OMIM:612852
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Cyanosis, Abnormal mucociliary clearance, Elev... ORPHA:90051
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R... OMIM:243700
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Buerger Disease
Acrocyanosis ORPHA:36258
Cutis Laxa, Autosomal Recessive, Type Ic
Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalac... OMIM:613177
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return... OMIM:616749
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Mildly elevated creatine kinase, Respiratory insufficiency ORPHA:1145
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death OMIM:231680
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal imm... ORPHA:276
Nocardiosis
Respiratory distress, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... ORPHA:1329
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:613561
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... OMIM:181000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Low plasma citrulline, Cyanosis, Apnea OMIM:261680
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Cardiac Valvular Dysplasia 2
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Central cyanosis OMIM:620067
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Right aortic arch, Interru... OMIM:617478
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... ORPHA:1199
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Elevated circulating creatine kinase concentration, Telangiectasia OMIM:608799
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Infantile Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis, Hyperammonemia ORPHA:289916
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated circulating cr... ORPHA:308552
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulmonary artery... ORPHA:228116
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Pulmonary h... OMIM:620306
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia OMIM:618253
Short-Rib Thoracic Dysplasia 12
Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:269860
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Hypoalbuminemia, Pleural... ORPHA:292
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect... OMIM:123700
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pne... OMIM:607143
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis, Hyperammonemia ORPHA:79312
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Pulmonary infiltrates, Interstitial pneumonitis... OMIM:616433
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia ORPHA:927
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Pulmonary artery hypoplasia, Cyanosis ORPHA:2326
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Meckel Syndrome 14
Cyanosis, Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest OMIM:619879
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis, Partial absence of sp... OMIM:619652
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Stt3B-Cdg
Respiratory distress, Cryptorchidism ORPHA:370924
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Elevated circulating creatine kinase conc... ORPHA:329178
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:620166
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Hyperkalemia, Hypocalcemia, Abnorm... ORPHA:31826
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura OMIM:608013
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo... OMIM:235200
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Hyperglycinemia, Hyposerinemia ORPHA:284417
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Timothy Syndrome
Pulmonary arterial hypertension, Hypocalcemia, Pneumonia, Bronchitis OMIM:601005
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,... OMIM:307200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis OMIM:620365
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Emphysema, ... OMIM:242700
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Atelectasis, Cryptorchidism, Cheil... ORPHA:534
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Rh Deficiency Syndrome
Hypoxemia, Jaundice, Tachypnea, Miscarriage ORPHA:71275
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Eryth... ORPHA:228123
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Decreased circulating IgA level, Decreased circulat... ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration OMIM:604377
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Hypoalbuminemia, Respiratory insufficiency ORPHA:367
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... OMIM:617303
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Congenital Rubella Syndrome
Jaundice, Abnormality of the pulmonary artery ORPHA:290
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... ORPHA:431361
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Rhinitis, Periodontitis... ORPHA:486
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Methylmalonic acidemia, Hyperammonemia, Tubulointerstitial nephritis, Hyper... OMIM:251000
Bloom Syndrome
Skin rash, Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Che... ORPHA:125
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Klippel-Trénaunay Syndrome
Abnormality of the pulmonary artery, Respiratory insufficiency, Pulmonary embolism ORPHA:90308
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Immunodeficiency With Hyper-Igm, Type 1
Hypoxemia, Recurrent lower respiratory tract infections OMIM:308230
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... OMIM:615952
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Pulmonary... ORPHA:3342
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Erythema, Urticaria, Arthritis, Recurrent aphthous ... ORPHA:343
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Epididymitis, Bronchiectasis, Prostatitis, ... OMIM:300755
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Pneumonia, Increased circulating guanosine concentration, Recurrent uppe... OMIM:613179
Tetanus
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration ORPHA:3299
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Progressive pulmonary function impairment, Ab... ORPHA:77293
Acquired Purpura Fulminans
Acrocyanosis, Skin rash, Elevated circulating C-reactive protein concentration, Macular purpura ORPHA:49566
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Ascending tubular aorta aneurysm, Aortic root aneurysm,... ORPHA:284979
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Isolated Atp Synthase Deficiency
Respiratory distress, Hyperalaninemia, Hyperammonemia ORPHA:254913
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... ORPHA:340
22Q11.2 Deletion Syndrome
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo... ORPHA:567
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Inflammatory abnormality of the skin, Cutis marmorata, Cholangitis, Eczema,... ORPHA:3260
Hsd10 Disease, Infantile Type
Cyanosis, Hyperammonemia ORPHA:391428
Congenital Fibrinogen Deficiency
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Abnormal ascending aorta morphology, Aortopulmonary wi... ORPHA:2299
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa... OMIM:616482
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Cocaine Intoxication
Respiratory distress, Elevated circulating creatine kinase concentration, Glomerulonephritis, Dif... ORPHA:90068
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Eosinophilic Fasciitis
Arthritis, Fasciitis, Acrocyanosis, Myositis ORPHA:3165
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Mitochondrial swelling OMIM:615595
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Good Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ... ORPHA:169105
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis ORPHA:3304
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res... ORPHA:537
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Decreased ... OMIM:223900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Jaundice, Chronic mucocutaneous candidiasis, Abnormal circulati... ORPHA:79124
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... ORPHA:911
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema... ORPHA:221
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Elevated circulating creatinine concentration, Prolonged neonatal... OMIM:274150
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Brucellosis
Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increased... ORPHA:1304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Myotonic Dystrophy 1
Respiratory distress, Testicular atrophy OMIM:160900
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Recurrent respiratory infections, Pulmonary arterial hypertension ORPHA:2282
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Achondroplasia
Hypoxemia, Restrictive ventilatory defect ORPHA:15
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Premature skin wrinkling, Aortic root aneurysm, Aortic atherosclerotic... ORPHA:363618
Dravet Syndrome
Cyanotic episode ORPHA:33069
Sickle Cell Anemia
Hypoxemia ORPHA:232
Listeriosis
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice, Per... ORPHA:533
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Pneumonia, Jaundice, Hyperkalemia, Macroorchi... ORPHA:90790
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Cutis marmorata, Recurrent pneumonia, Bronchie... OMIM:301220
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Moebius Syndrome
Respiratory distress, Decreased testicular size OMIM:157900
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... OMIM:219700
Neuraminidase Deficiency
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:256550
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Coarctation of aorta, Palmoplantar cu... ORPHA:363705
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Cardiogenic Shock
Hypoxemia, Dyspnea, Increased pulmonary capillary wedge pressure, Crackles ORPHA:97292
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Digeorge Syndrome
Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruct... OMIM:188400
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Myasthenia Gravis
Myositis, Dyspnea, Hepatitis, Rheumatoid arthritis, Acrocyanosis, Hashimoto thyroiditis ORPHA:589
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract inf... ORPHA:544482
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Tarp Syndrome
Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Japanese Encephalitis
Respiratory distress, Hyponatremia, Pulmonary edema, Increased circulating IgM level, Respiratory... ORPHA:79139
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Histiocytoid Cardiomyopathy
Cough, Tachypnea, Cyanosis, Pulmonary edema ORPHA:137675
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE level, Otitis ... OMIM:602450
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Elevated circulating C-reactive protein concentration, Bronc... OMIM:619381
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Pneumonia, Bronchitis, Cholangitis, Keratitis, Lymphadenitis,... ORPHA:2552
Shigellosis
Hyponatremia, Pneumonia, Myocarditis, Peritonitis, Abnormal blood ion concentration, Uveitis, Ulc... ORPHA:810
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypertyrosinemia, Conjugated hyperbilirubinemia, Jaundice, Hypoalbuminemia,... OMIM:617156
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Hypocalcemic tetany, Atypical or prolonged hepatitis, Thyroiditis, Chronic ... ORPHA:83471
Colchicine Poisoning
Respiratory distress, Hyponatremia, Myocarditis, Abnormal blood ion concentration, Cardiorespirat... ORPHA:31824
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ... OMIM:600802
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Familial Dysautonomia
Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology ORPHA:1764
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respira... ORPHA:293987
Omenn Syndrome
Hypoproteinemia, Pneumonia, Erythroderma OMIM:603554
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Omenn Syndrome
Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly OMIM:618886
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Increased circulating IgM level,... ORPHA:505248
Chand Syndrome
Atelectasis ORPHA:1401
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Hyperammonemia, Conjunctivitis, Eczematoid dermatitis, Hy... ORPHA:79241
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Hypoplastic aortic arch, Coarctation of ... OMIM:306955
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia OMIM:251110
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated ... ORPHA:465508
Leptospirosis
Respiratory distress, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Op... ORPHA:509
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia, Elevated circulating creatinine concentration, Punctate vasculitis skin les... ORPHA:247691
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood... ORPHA:79404
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Erythema, Respiratory insufficiency, Urticaria ORPHA:2135
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Cryptorchidism ORPHA:2519
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... OMIM:607944
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Elevated circulating C-reactive protein concentration, Increased ... ORPHA:97214
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Diabetic Embryopathy
Abnormality of the pulmonary artery, Abnormal aortic morphology ORPHA:1926
Kniest Dysplasia
Respiratory distress, Recurrent otitis media, Tracheomalacia OMIM:156550
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration OMIM:618733
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circulating IgA level, ... ORPHA:2298
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Reduced FEV1... ORPHA:70591
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypoxemia ORPHA:456312
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cryptorchidism, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Aspiration pneumonia OMIM:619167
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure OMIM:252010
Mirage Syndrome
Hyponatremia, Cryptorchidism, Hyperkalemia, Aspiration pneumonia, Decreased testicular size, Pete... OMIM:617053
Sickle Cell Disease
Hypoxemia, Jaundice OMIM:603903
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Methylmalonic acidemia, Abnormal mitochon... ORPHA:17
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Methylmalonic acidemia, Pulmonary embolism, Jaundice, Hy... ORPHA:79282
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Decreased circulati... ORPHA:79329
Dextrocardia
Abnormality of the pulmonary artery, Abnormal lung lobation, Abnormal pulmonary situs morphology ORPHA:1666
Cystic Fibrosis
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Reduced forced expiratory volume in... ORPHA:586
Congenital Myopathy 13
Hypoxemia, Restrictive ventilatory defect, Hypercapnia OMIM:255995
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia OMIM:251100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Increased circulating ferritin concentratio... OMIM:615846
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Pulmonary lymphangiomyoma... ORPHA:805
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis, Left aortic arch with cervical origin of the right subclavian... OMIM:212093
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism ORPHA:1555
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... OMIM:614921
Pachyonychia Congenita
Respiratory distress, Angular cheilitis ORPHA:2309
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Telangiectasia ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Dyspnea, Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Steatorrhea OMIM:260400
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin... OMIM:245150
Chops Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic ... OMIM:616368
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Elevated circulating alpha-fetoprotein co... OMIM:615273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections ORPHA:177907
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea, Flushing ORPHA:2131
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyperkalemi... ORPHA:94093
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased circu... ORPHA:221139
Fanconi Anemia, Complementation Group F
Cryptorchidism, Pneumonia OMIM:603467
Pitt-Hopkins Syndrome
Cryptorchidism, Esophagitis, Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia ORPHA:556955
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Cryptorchidism ORPHA:404448
Pagod Syndrome
Death in infancy, Pulmonary artery hypoplasia, Abnormal aortic morphology, Pulmonary hypoplasia, ... ORPHA:991
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Purpura ORPHA:2330
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... ORPHA:707
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Eczema, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Acute Liver Failure
Jaundice, Abnormal respiratory system physiology, Hypocapnia, Bruising susceptibility, Abnormal p... ORPHA:90062
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, Hypoamylasemia, Increased serum bile acid... ORPHA:811
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Palmoplantar cutis laxa OMIM:123790
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:268800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic... ORPHA:83617
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Osteomyelitis leading to amputation due to slow healing fractures... OMIM:256810
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... ORPHA:14
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperalaninemia, Hyperventi... ORPHA:255210
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia, Osteomyelitis, Re... ORPHA:2968
Exercise-Induced Malignant Hyperthermia
Flushing, Tachypnea, Crackles, Hypocapnia ORPHA:466650
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Liver Disease, Severe Congenital
Hyponatremia, Chronic gastritis, Pneumonia, Elevated circulating alpha-fetoprotein concentration,... OMIM:619991
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious encephalitis ORPHA:68
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Ramos-Arroyo Syndrome
Respiratory distress, Keratitis ORPHA:1051
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Cornelia De Lange Syndrome 1
Cryptorchidism, Cutis marmorata, Pneumonia, Otitis media OMIM:122470
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung ... ORPHA:397715
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Hyperoxaluria, Primary, Type I
Acrocyanosis, Peripheral arterial stenosis, Cutis marmorata OMIM:259900
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Atherosclerosis, Pulmona... ORPHA:740
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... OMIM:602535
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... OMIM:602782
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Cryptorchidism ORPHA:2554
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin, Abnormality of the pulmonary artery ORPHA:500
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Cyanosis, Coronary artery calcifica... ORPHA:51608
Gitelman Syndrome
Respiratory distress, Hypermagnesemia, Gout, Tubulointerstitial nephritis, Hypokalemia, Hypocalce... ORPHA:358
Rubinstein-Taybi Syndrome 1
Respiratory distress, Respiratory tract infection, Recurrent upper respiratory tract infections, ... OMIM:180849
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Interrupted aortic arch ORPHA:2255
Aicardi-Goutières Syndrome
Myositis, Cutis marmorata, Chilblains, Increased circulating interferon-gamma concentration, Arth... ORPHA:51
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis, Double aortic arch ORPHA:216694
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Aspira... ORPHA:581
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... OMIM:252500
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Erythema, Respiratory failure, Abnormal testis morphology ORPHA:2556
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism OMIM:166250
Fucosidosis
Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:230000
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hypoplastic aortic arch, Abnormal lung lobation, Coarctation of aorta ORPHA:508488
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Degcags Syndrome
Pneumonia, Cryptorchidism, Asthma, Premature graying of hair, Rhinitis, Hyperbilirubinemia, Trach... OMIM:619488
Niemann-Pick Disease Type C
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... ORPHA:646
Isolated Arrhinia
Respiratory distress ORPHA:1134
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Hypocapnia ORPHA:90794
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Prominent superficial veins, Prematurely aged appearance, Cr... OMIM:612289
Atypical Werner Syndrome
Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f... ORPHA:79474
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Prominent scalp veins, Hyp... OMIM:264090
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... ORPHA:75565
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Coffin-Siris Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Primary Hyperoxaluria
Hyperoxaluria, Acrocyanosis, Cutis marmorata ORPHA:416
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Aortic root aneurysm, Ecchymosis, Acrocyanosis, ... ORPHA:287
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media ORPHA:353281
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Coarctation of aorta OMIM:617088
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorchidism, Aspiration... ORPHA:438213
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney OMIM:130650
Alström Syndrome
Respiratory distress, Hypertriglyceridemia, Dorsocervical fat pad, Glomerulonephritis, Testicular... ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353277
Beckwith-Wiedemann Syndrome
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, H... ORPHA:116
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:480880
Lafora Disease
Recurrent aspiration pneumonia, Severe photosensitivity ORPHA:501
Hypermobile Ehlers-Danlos Syndrome
Ascending tubular aorta aneurysm, Acrocyanosis, Apnea ORPHA:285
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Overriding aorta, Bicu... ORPHA:904
Pmm2-Cdg
Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Abnormal subcutaneous fat ... ORPHA:79318
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot ORPHA:3472
Coffin-Lowry Syndrome
Acrocyanosis, Cutis marmorata OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Septic arthritis, Bruising susceptibility, Recurrent aspiration pneumonia ORPHA:642
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery ORPHA:709
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta ORPHA:261537
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Cryptorchidism OMIM:216340
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormality of the pulmonary artery, Pulmonary artery sling, Coarctation of aorta ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Wfdc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Wfdc2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
LAMA: automated image analysis for the developmental phenotyping of mouse embryos. Development (Cambridge, England) (March 2021) Wfdc2em1(IMPC)H PMC8015254
Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice. Disease models & mechanisms (November 2019) Wfdc2tm1a(EUCOMM)Hmgu PMC6899016
Colonic epithelial cell diversity in health and inflammatory bowel disease. Nature (February 2019) Wfdc2em1(IMPC)H 30814735
Non-human lnc-DC orthologs encode Wdnm1-like protein. F1000Research (July 2014) Wfdc21tm1a(KOMP)Wtsi PMC4184305

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Wfdc2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Wfdc2em1(IMPC)H Exon Deletion Mice
Wfdc2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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