Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
matrix metallopeptidase 10
Synonyms:
stromelysin 2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mmp10 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 Mmp10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia OMIM:243110
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Recurrent viral infections OMIM:308220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 35
Recurrent respiratory infections, Recurrent fungal infections, Recurrent viral infections, Recurr... OMIM:611521
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infec... ORPHA:319552
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Frequent Giardia lamblia infestation, Rec... OMIM:300310
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Agammaglobulinemia 3, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections, Recurre... OMIM:613501
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia, Recurrent bacterial infections OMIM:613494
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Atelectasis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Immunodeficiency 48
Eczematoid dermatitis, Recurrent candida infections, Pneumonia OMIM:269840
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Idiopathic Bronchiectasis
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Increased inflammatory response, Myocardial infarction, Abnormal onset of ble... ORPHA:3325
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Immunodeficiency 104
Pneumonia, Recurrent opportunistic infections, Eczema, Otitis media, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Recurrent ba... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Bronchiectasis, Ost... OMIM:608184
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Recurrent bronchitis OMIM:312863
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Immunodeficiency 27B
Osteomyelitis, Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurr... OMIM:615978
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Cystic Disease Of Lung
Recurrent infections, Spontaneous neonatal pneumothorax, Multiple pulmonary cysts OMIM:219600
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, Conjunctivitis, Oti... OMIM:601457
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Stomatitis, Recurrent viral infections, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent viral infections, Asthma, Recurrent bacter... OMIM:243700
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent bacterial infections, Recurrent sinusitis, Recurrent respirator... OMIM:613493
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immune Deficiency Disease
Fulminant hepatitis, Recurrent bacterial infections, Recurrent viral infections, Cholangitis OMIM:242850
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Asthma, Meningitis, Recurrent sinusitis, Chronic act... OMIM:614379
Scedosporiosis
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... ORPHA:449280
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Recurrent bronchitis... OMIM:612692
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis OMIM:613502
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent pneumonia, Pneumonia, Recurrent bacterial infections, Recurrent... OMIM:607594
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Hashimoto thyroiditis, Recurrent ... ORPHA:275
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 77
Cutaneous abscess, Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Nontuber... OMIM:619223
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial infections OMIM:193670
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Severe infection, Cholangitis, Recurrent streptococcal i... ORPHA:183675
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Elevated jugular venous pressure, Abnormally loud pulmonic component of the second heart sound, P... OMIM:265450
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Meningitis, Recurren... OMIM:240500
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cardiac arrest, Tachypnea, Respiratory failure, Respiratory tract infection... ORPHA:70587
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax OMIM:262850
Immunodeficiency 62
Bronchiectasis OMIM:618459
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Sinusitis, Pneumonia, Severe in... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent s... OMIM:616576
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Immunodeficiency 75
Recurrent respiratory infections, Persistent EBV viremia, Bronchiectasis OMIM:619126
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insufficiency, Crackles, Cough, Br... ORPHA:2032
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... OMIM:615343
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Purpura OMIM:612336
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiectasis, Eczema, ... OMIM:618282
Selective Igm Deficiency
Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections... ORPHA:331235
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Cholangitis, Bronchiectasis, R... OMIM:615207
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... OMIM:106700
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Recurrent pneumonia, Recurrent infections, Pneumonia, Erythroderma, ... ORPHA:169160
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis... OMIM:613193
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis med... OMIM:614017
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Cough, Pulmonary venous occlusion, Pulmonary arterial hypert... OMIM:234810
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Recurrent viral infections, Recurrent mycobacterial infections, Colitis... ORPHA:911
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sinusitis, Sclerosing cholangitis, Recurrent viral in... ORPHA:572
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Systolic heart murmur, Arrhythmia, Abnormally loud pulmonic component of the second he... ORPHA:99104
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Persistent CMV viremia, Recurrent viral infections, Severe varicella zost... OMIM:300853
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Slc35A1-Cdg
Pneumonia, Hypoxemia, Pulmonary hemorrhage, Respiratory distress, Abnormal bleeding, Prolonged bl... ORPHA:238459
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Pneumonia, Severe recurrent varicella, Recurrent bacterial... ORPHA:276
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Shock, Respiratory failure, Hypotension, Dyspnea, Vasculitis, Sepsis, Pancr... ORPHA:70578
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Hypertension, Atelectasis OMIM:268500
Pulmonary Arteriovenous Malformation
Recurrent abscess formation, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Ischemic st... ORPHA:2038
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Bundle branch block, Increased pulmonary vascular resistance, Atrial fibrill... ORPHA:99103
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Molluscum contagiosum, Bronchiectasis, Herpes simpl... OMIM:618982
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Meningitis, Recurrent respiratory infe... ORPHA:229717
Rigid Spine Syndrome
Respiratory insufficiency, Cardiac conduction abnormality, Pneumonia, Abnormality on pulmonary fu... ORPHA:97244
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Bronchiectasis, Persistent EBV... OMIM:617514
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Gin... ORPHA:79
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Purpura, Glomerulonephritis OMIM:613496
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Cutaneous abscess, Recurrent fun... OMIM:147060
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233710
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Severe infection, Tachypnea, R... ORPHA:36238
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Pulmonary Hypertension, Primary, 4
Atrial flutter, First degree atrioventricular block, Increased pulmonary vascular resistance, Rig... OMIM:615344
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Persistent CMV viremia, Bronchiectasis, Recurrent ... OMIM:619220
Melioidosis
Pneumonia, Unusual skin infection, Lung abscess, Parotitis, Cutaneous abscess, Prostatitis, Osteo... ORPHA:31202
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Bronchiectasis, Recu... OMIM:601495
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, Pneumonia, Recurrent fungal infections, Recurrent bacterial meningitis, Chro... OMIM:300400
Aspergillosis
Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Invasive pulmonary a... ORPHA:1163
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis OMIM:616005
Immunodeficiency 33
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection OMIM:300636
Immunodeficiency 14A, Autosomal Dominant
Recurrent respiratory infections, Recurrent ear infections, Recurrent sinopulmonary infections, B... OMIM:615513
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233690
Microlissencephaly
Pneumonia ORPHA:1083
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Recurrent skin infections, Recurrent bacterial infections, Sepsis, Abnormal bleeding, ... OMIM:612840
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Caspase 8 Deficiency
Pneumonia, Asthma, Eczema, Recurrent sinopulmonary infections, Recurrent herpes OMIM:607271
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Recurrent bacterial infections, Recurrent ap... ORPHA:2688
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Recurrent ear infections, Recurrent viral infections, Pneumonia, Perio... ORPHA:486
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Pulmonary Non-Tuberculous Mycobacterial Infection
Disseminated nontuberculous mycobacterial infection, Crackles, Cough, Pleural effusion, Bronchiec... ORPHA:411703
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance OMIM:615342
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypertrophic cardiomyopathy, Osteoarthr... ORPHA:1345
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Arthritis, Cough, Meningitis, Bronchi... ORPHA:33110
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Cough, Menin... ORPHA:3392
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Bronchiolitis, Pneumonia OMIM:266265
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Recurrent mycobacterial infections,... ORPHA:244
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis, Meningitis, Severe infection ORPHA:464370
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, R... OMIM:613179
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Recurrent bacterial infections, Recurrent staphylococcal infections, Osteomyelitis... OMIM:116920
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:306400
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Bacterial Toxic-Shock Syndrome
Severe infection, Tachypnea, Recurrent urinary tract infections, Hepatitis, Fasciitis, Skin rash,... ORPHA:36234
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections OMIM:607676
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Recurrent infections, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Immunodeficiency 57 With Autoinflammation
Bronchiectasis, Inflammation of the large intestine, Recurrent respiratory infections, Chronic lu... OMIM:618108
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Diffuse alveo... ORPHA:199241
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Immunodeficiency 58
Recurrent pneumonia, Recurrent upper respiratory tract infections, Helicobacter pylori infection,... OMIM:618131
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Uveitis, Pneumonia, Arthritis,... OMIM:614700
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Dyspnea, Recurrent respiratory i... ORPHA:75249
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Recurrent bronchopulmonary... OMIM:242700
Timothy Syndrome
Recurrent infections, Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis OMIM:601005
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Subcutaneous hemorrhage, Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritoniti... ORPHA:228119
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Recurrent aphthous stomatitis, Bronchiectasis, Chronic... OMIM:150550
Immunodeficiency 92
Recurrent oral herpes, Sclerosing cholangitis, Pneumonia, Persistent CMV viremia, Cholangitis, Os... OMIM:619652
Pgm3-Cdg
Vasculitis in the skin, Recurrent pneumonia, Recurrent infections, Recurrent skin infections, Rec... ORPHA:443811
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Otitis media OMIM:602450
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Chronic infection, Abnormal pleura morphology, Pulmonary cyst, Coug... ORPHA:2357
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis OMIM:241600
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis OMIM:618523
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Recurrent pneumonia, Lymphadenitis, Chronic bronchitis, Severe varicella ... OMIM:618986
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Severe varicella zoster infection, Re... OMIM:606367
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Congestive heart failure, Infectious encephalitis, Tac... ORPHA:454836
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Vasculitis in the skin, Asthma, Molluscum contagiosum... OMIM:615816
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... OMIM:265400
Nocardiosis
Severe infection, Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Asthma, Bronchiectasis, Pulmonary bulla, Recurrent lower res... OMIM:619632
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Atrial Septal Defect 9
Pulmonary arterial hypertension OMIM:614475
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent otitis media, Recurrent infections, Infectious encephalitis, Prost... OMIM:300755
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Recurrent bronchitis, Bronchiectasis, Recur... ORPHA:1572
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hy... ORPHA:275766
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Pulmonary embolism, Budd-Chiari syndrome OMIM:226300
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Respiratory failure requiring assisted ventilation, Recurrent aspiration pn... ORPHA:204
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Cardiogenic shock, Abnormal pulmonary interstitial morpho... ORPHA:97287
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Recurrent viral infections, Respi... ORPHA:420741
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Elevated jugular venous pressure... ORPHA:1329
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Pulmonary embolism, Purpura ORPHA:743
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Purpura ORPHA:745
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Bronchiectasis, Eczema, Sepsis, Ps... OMIM:616100
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Gingival bleeding, Meningitis... OMIM:600903
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Hypoxemia, Abnormal left... ORPHA:97292
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent skin infections, Pul... OMIM:619752
Congenital Tricuspid Stenosis
Congestive heart failure, Tricuspid stenosis, Hypotension, Pulmonary arterial hypertension, Heart... ORPHA:95459
Immunodeficiency 27A
Salmonella osteomyelitis, Increased inflammatory response, Pneumonia, Abnormal bronchus physiology OMIM:209950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Pneumonia, Recurrent viral infections, Asthma, Recurrent bacteria... OMIM:102700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Pulmonic stenosis, Pulmonary arterial hypertension, Recurrent res... OMIM:612541
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Melena, Keratoconjunctiviti... OMIM:158310
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Chronic hepatitis, Recurrent bacterial infections, Meningitis, Hepatitis,... OMIM:308230
Graft Versus Host Disease
Recurrent infections, Myositis, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormalit... ORPHA:39812
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Recurrent viral infections, Recurrent bacterial infections, Recurrent upper and lo... ORPHA:331206
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Tac... OMIM:265120
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Aortic regurgitation, Systolic heart murmur, Congestive heart fai... ORPHA:3092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Portal hypertension, Recurrent ear infections, Recurrent viral infec... ORPHA:79124
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Q Fever
Pneumonia, Unusual infection, Abnormal left ventricular function, Infectious encephalitis, Maculo... ORPHA:781
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Bronchiectasis, Pulmonary fibrosis, Recurrent sinopulmonary infections,... OMIM:618394
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Cough, Dyspnea, Pulmonary arterial hypertension, C... ORPHA:228116
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointe... ORPHA:139402
Mirage Syndrome
Petechiae, Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis, Aspiration... OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, Meningitis, Recu... OMIM:600802
Polycythemia Vera
Bruising susceptibility, Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Gi... ORPHA:729
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Severe infection, Hypertension, H... ORPHA:340
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Dyspnea, Bronchiectasis, Recurrent respiratory infec... ORPHA:169105
Alpha-Mannosidosis, Adult Form
Recurrent infections, Recurrent gastroenteritis, Pneumonia, Aortic regurgitation ORPHA:309288
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Bronchiectasis OMIM:242860
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Recurrent viral infections, Recurrent bacterial infections, Recurrent f... ORPHA:221139
Bloom Syndrome
Recurrent infections, Uveitis, Pneumonia, Respiratory failure, Telangiectasia, Recurrent tonsilli... ORPHA:125
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Periodontitis, Recurren... OMIM:608233
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Bronchitis, Infectious encephalitis... ORPHA:2552
Vici Syndrome
Dilated cardiomyopathy, Recurrent viral infections, Congestive heart failure, Recurrent bacterial... OMIM:242840
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Telangiectasia, Retinal neovascularization, Hypertension,... ORPHA:247691
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Congestive heart failure, Pulmonary embolism, Abnormality of the pul... ORPHA:90308
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Zygomycosis
Gastrointestinal hemorrhage, Invasive fungal infection, Hepatitis, Hematemesis, Pancreatitis, Fas... ORPHA:73263
Omenn Syndrome
Thyroiditis, Pneumonia, Sepsis, Erythroderma ORPHA:39041
Chédiak-Higashi Syndrome
Recurrent infections, Bruising susceptibility, Recurrent streptococcal infections, Periodontitis,... ORPHA:167
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurr... ORPHA:293978
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Eczema, Desquamative inte... OMIM:615952
Listeriosis
Arteritis, Conjunctivitis, Pyelonephritis, Unusual skin infection, Congestive heart failure, Infe... ORPHA:533
Hereditary Hemorrhagic Telangiectasia
Portal hypertension, Gastrointestinal hemorrhage, Mucosal telangiectasiae, Congestive heart failu... ORPHA:774
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Gastrointestinal hemorrhage, Nail bed telangiectasia, Telangiectasia of the skin, Gast... OMIM:187300
Spondyloenchondrodysplasia
Recurrent infections, Pneumonia, Hepatitis, Hypertension, Vasculitis, Raynaud phenomenon, Skin ra... ORPHA:1855
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Hereditary Bullous Dystrophy, Macular Type
Heart murmur, Pneumonia ORPHA:1867
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea, Tachycardia ORPHA:79264
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Pneumonia, Ventricular tachycardia, Arrhythmia,... ORPHA:26793
Absence Of The Pulmonary Artery
Nonproductive cough, Recurrent pneumonia, Atrial flutter, Reduced ejection fraction, Systolic hea... ORPHA:980
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Cough, Meningitis, Pleural effusion, Dyspnea, Osteomyelitis,... ORPHA:1546
Coccidioidomycosis
Invasive fungal infection, Pancreatitis, Coccidioidal meningitis, Exudative pleural effusion, Ski... ORPHA:228123
Chronic Thromboembolic Pulmonary Hypertension
Abnormal T-wave, Reduced FEV1/FVC ratio, Abnormal left ventricular function, Congestive heart fai... ORPHA:70591
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Hypotension, Dyspnea, Hypertension, Respiratory di... ORPHA:330021
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Restrictive ventilatory defect, Pneumonia, Rheumatoid arthritis, Recurren... OMIM:607944
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Tenorio Syndrome
Raynaud phenomenon, Pneumonia, Keratoconjunctivitis sicca, Syncope, Apnea, Stomatitis OMIM:616260
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Molluscum contagiosum, Recurrent bacterial infections OMIM:300291
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Bundle branch block, Epididymitis, Hypertension, Hematemesis, Subdura... ORPHA:99827
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Sickle Cell Anemia
Recurrent bacterial infections, Hypertension, Hypoxemia OMIM:603903
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Recurrent viral infections, Severe cytomegalovirus infection, Third degre... OMIM:619573
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Bruising susceptibility, Prolonged bleeding following procedure, Menorrhagia, Periodontitis, Recu... ORPHA:79259
Chediak-Higashi Syndrome
Recurrent infections, Bruising susceptibility, Periodontitis, Spontaneous, recurrent epistaxis, R... OMIM:214500
Shigellosis
Hypovolemic shock, Uveitis, Pneumonia, Arthritis, Peritonitis, Myocarditis, Acute colitis, Sepsis... ORPHA:810
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Bronchitis, Hip osteoarthritis, Lung abscess, Infe... ORPHA:1304
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Severe infection, Myocarditis, Respiratory tract infection, Meningitis, Acute colitis,... ORPHA:544482
Familial Multiple Nevi Flammei
Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Behçet Disease
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... ORPHA:117
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Congestive heart failure, Rec... ORPHA:391487
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Bradycardia, Respiratory failure, Respiratory insufficiency due t... ORPHA:70
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Myocarditis, Myocardial infarction, Pulmonary arterial hypertension, Transien... ORPHA:464343
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Glycogen Storage Disease Ib
Gout, Recurrent bacterial infections, Hypertension, Pancreatitis OMIM:232220
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Shwachman-Diamond Syndrome
Sinusitis, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Eczema, Osteomy... ORPHA:811
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Aspiration pneumonia, Dilated cardiomyopathy, Mitral regur... OMIM:619167
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Pulmonary embolism, Minimal change glomerulonephritis, Respiratory tract infection ORPHA:567548
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Severe infection, Hypercapnia, Res... ORPHA:79138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Recurrent infections, Respiratory failure requiring assisted ventilation, Pyelonephritis, Periton... OMIM:619351
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Recurrent bacterial infections ORPHA:2176
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Recurrent infections, Recurrent skin infecti... OMIM:619381
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Reduced forced vital... OMIM:219700
Plague
Lymphadenitis, Erythema nodosum, Arrhythmia, Inflammatory abnormality of the eye, Hypotension, Me... ORPHA:707
Hennekam-Beemer Syndrome
Pneumonia, Arrhythmia, Hypotension, Telangiectasia of the skin, Respiratory insufficiency ORPHA:2135
Gm1 Gangliosidosis
Congestive heart failure, Infectious encephalitis, Recurrent respiratory infections, Cardiomyopat... ORPHA:354
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalveolar lavage fl... OMIM:181000
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Resp... ORPHA:79404
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Inflammatory abnormality of the skin, Pancreatitis, Intracranial ... ORPHA:3260
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Sepsis, Bradycard... ORPHA:94093
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Cholera
Hypovolemic shock, Tachypnea, Hypotension, Hyperventilation, Tachycardia, Aspiration pneumonia ORPHA:173
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Unusual skin infection, Arrhythmia, Infectious encephalitis, Respiratory tr... ORPHA:68
Alpha-Mannosidosis, Infantile Form
Recurrent infections, Pneumonia, Aortic regurgitation, Recurrent gastroenteritis, Recurrent urina... ORPHA:309282
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Immunodeficiency 47
Recurrent infections, Recurrent bacterial infections, Tricuspid regurgitation OMIM:300972
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Pleural effusion, Respiratory tract infection, Dyspnea, Hypertension, Minimal... ORPHA:567546
Igg4-Related Kidney Disease
Urinary bladder inflammation, Sclerosing cholangitis, Lymphadenitis, Cholecystitis, Interstitial ... ORPHA:449395
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Premature ventricular contracti... OMIM:602535
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Recurrent tonsillitis, Respiratory tract infection, Upper airway obstr... ORPHA:581
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, ... OMIM:619482
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Blepharitis, Uveitis, Scleritis, Recurrent bacterial infections, Episclerit... ORPHA:2273
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrh... OMIM:130050
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Glomerulonephritis, Recurrent bacterial infections, Tubu... ORPHA:470
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Degcags Syndrome
Recurrent infections, Pneumonia, Tracheomalacia, Asthma, Pulmonic stenosis, Pulmonary arterial hy... OMIM:619488
Classic Homocystinuria
Gastrointestinal hemorrhage, Subcutaneous hemorrhage, Pulmonary embolism, Hypertension, Cerebral ... ORPHA:394
Insulin-Resistance Syndrome Type B
Nephritis, Osteoarthritis, Pneumonia, Skin rash ORPHA:2298
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Orthostatic hypotension, Recurrent urinary tract infections ORPHA:99027
Familial Chylomicronemia Syndrome
Acute pancreatitis, Recurrent pancreatitis, Perianal abscess, Pulmonary embolism ORPHA:444490
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Bruising susceptibility, Osteomyelitis, Syncope, Fasc... ORPHA:642
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Cardiomyopathy ORPHA:79255
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent infections, Recurrent upper respiratory tract infections ORPHA:1465
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Pulmonic stenosis, Recurrent respiratory infections, Obstructive sleep apnea, ... ORPHA:353281
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Congestive heart failure, Asthma, Sleep apnea, Pulmonary arterial hypertension, C... ORPHA:444077
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Pulmonic stenosis, Recurrent respiratory infections, Obstructive s... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Pulmonic stenosis, Recurrent respiratory infections, Obstructive s... ORPHA:353277
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Semilobar Holoprosencephaly
Abnormal pattern of respiration, Chronic lung disease, Central apnea, Abnormal heart rate variabi... ORPHA:220386
Alobar Holoprosencephaly
Abnormal pattern of respiration, Chronic lung disease, Central apnea, Abnormal heart rate variabi... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal pattern of respiration, Chronic lung disease, Central apnea, Abnormal heart rate variabi... ORPHA:93926
Lobar Holoprosencephaly
Abnormal pattern of respiration, Chronic lung disease, Central apnea, Abnormal heart rate variabi... ORPHA:93924
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Abnormal lung morphology, Respiratory failure ORPHA:646
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory insufficiency, Tricuspid regurgitation... OMIM:612289
Multiple Osteochondromas
Pneumothorax, Arthritis, Hemothorax ORPHA:321
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Pulmonic stenosis, Obstructive sleep apnea, Breathing dysre... ORPHA:438213
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Recurrent infections OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Cardiomyopathy, Aspiration pneumonia, Heart murmur OMIM:216340
Pmm2-Cdg
Hypertrophic cardiomyopathy, Respiratory distress, Pericarditis, Angina pectoris, Aspiration pneu... ORPHA:79318

Histopathology

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

There is no histopathology data for Mmp10

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 Mmp10.

No publications found that use IMPC mice or data for Mmp10.

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MGI Allele Allele Type Produced
Mmp10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mmp10tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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