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Gene: Mmp10 MGI:97007

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent respiratory infections, Recurrent viral infections,... OMIM:611521
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections OMIM:613495
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen... OMIM:300455
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Increased inflammatory respons... ORPHA:3325
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Immunodeficiency 61
Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren... OMIM:613500
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... OMIM:614868
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast... OMIM:605258
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Eos... OMIM:243700
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Myocardial i... ORPHA:60033
Polycystic Lung Disease
Recurrent infections, Multiple pulmonary cysts, Spontaneous neonatal pneumothorax OMIM:219600
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis, Recurrent bacterial infections OMIM:613502
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur... OMIM:613501
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Disseminated molluscum contagiosum, Colonic eos... OMIM:617638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni... OMIM:601457
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Chronic sinusitis, Recurrent b... OMIM:612692
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Conjunctivitis, Recu... OMIM:613493
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent aphthous stomatitis, Sk... ORPHA:275
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis OMIM:193670
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Alpha-2-Plasmin Inhibitor Deficiency
Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility OMIM:262850
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Complement Factor I Deficiency
Vasculitis, Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Pye... OMIM:610984
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... ORPHA:449280
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Recurrent infections, Sepsis, Invasive fungal infection, Eczematoid dermatitis, Opport... ORPHA:83471
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c... OMIM:209920
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Meningiti... OMIM:240500
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, R... OMIM:269840
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Chronic sinusitis, Severe cytomegalovir... ORPHA:397596
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otit... OMIM:307200
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Immunodeficiency 112
Recurrent viral infections, Chronic mucocutaneous candidiasis, BCGitis, BCGosis, Recurrent bacter... OMIM:620449
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ... OMIM:619223
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Recurrent otitis med... OMIM:615207
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection, Sepsis ORPHA:464370
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:616873
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Telangiectases of the cheeks, Recurrent lower respiratory tract infections, Recurrent upper respi... OMIM:615139
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Recurrent otitis media, Recurrent bronchitis,... OMIM:300853
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczematoid dermatitis OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... ORPHA:911
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent infections, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to r... ORPHA:169160
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, ... ORPHA:572
Congenital Alpha2-Antiplasmin Deficiency
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... ORPHA:79
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Purpura, Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Recurrent infections,... OMIM:618982
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the... ORPHA:229717
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradyc... ORPHA:70587
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Melioidosis
Pneumonia, Unusual skin infection, Sepsis, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro... ORPHA:31202
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Sepsis, Chronic mucocutaneous candidiasis, Skin rash, Severe recurrent varicella, Recu... ORPHA:276
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Recurrent respiratory infections, Purpura, Glomerulonephritis OMIM:613496
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Recurrent fungal infections, Chronic oral candidiasis,... OMIM:300400
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Recurrent otitis media, Recurrent sinusiti... OMIM:601495
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Sepsis, Abnormal bleeding, Petechiae, Recurrent bacterial infections, Recurrent skin i... OMIM:612840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ... OMIM:620296
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab... OMIM:618282
Immunodeficiency 62
Recurrent upper respiratory tract infections, Severe recurrent varicella, Recurrent lower respira... OMIM:618459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Recurrent e... OMIM:615513
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Abnormal bleeding, Brain abscess, Pulmonary hemorrhage, Palpit... ORPHA:2038
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Recurrent otitis media, Recurrent oral herpes, Recurrent lower respirator... OMIM:619220
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Recurrent bacterial infecti... OMIM:615468
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Microlissencephaly
Pneumonia ORPHA:1083
Slc35A1-Cdg
Pneumonia, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time ORPHA:238459
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Ciliary Dyskinesia, Primary, 16
Chronic sinusitis, Chronic rhinitis, Pulmonary insufficiency, Chronic otitis media, Bronchiectasis OMIM:614017
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Pneumocystis jirovecii pneumonia, Recurr... OMIM:614069
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Rigid Spine Syndrome
Pneumonia, Cardiac conduction abnormality ORPHA:97244
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections OMIM:245480
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis OMIM:266265
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Osteoarthr... ORPHA:1345
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Osteomyelitis, Invasive pulmonary aspergi... ORPHA:1163
Immunodeficiency 32B
Pneumonia, Recurrent infections, BCGitis, Sinusitis, Recurrent respiratory infections, Bronchiect... OMIM:226990
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Pulmonary arterial hypertension, Erythema nodosum, Abn... OMIM:612387
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio... ORPHA:98813
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria... OMIM:116920
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Pulmonary arterial hypertension, Ventricular tachy... OMIM:601005
Immunodeficiency 115 With Autoinflammation
Recurrent viral infections, Eczematoid dermatitis, Superficial dermal perivascular inflammatory i... OMIM:620632
Caspase 8 Deficiency
Pneumonia, Recurrent herpes, Recurrent sinopulmonary infections, Eczematoid dermatitis OMIM:607271
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage, Subcutaneous hemorrhage, Recurrent bacterial infections OMIM:603585
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sin... ORPHA:33110
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... ORPHA:51636
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Shock, Abnormal pulmonary interstitial morphology... ORPHA:178320
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Palpable purpura, Glomerulonephritis, Bacterial endocarditi... ORPHA:48435
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Cerebral vas... OMIM:613179
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Pulmonary insu... ORPHA:2032
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema ... ORPHA:3392
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections OMIM:606843
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Pyoderma, Emphysema, Recu... OMIM:242700
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Sepsis, Shock, Pulmonary edema, Pancreatitis ORPHA:70578
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:306400
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Meningitis, Recurrent skin infections, Shock, Osteomyelitis, Ecc... ORPHA:36234
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Recurrent bacterial infecti... OMIM:616005
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Sepsis, Shock, Pleural effusion, Pneumothorax, Severe infection, Acute in... ORPHA:36238
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Bronchiectasis, Recurrent s... OMIM:620282
Immunodeficiency 10
Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren... OMIM:612783
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Recurrent viral infect... ORPHA:443811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Recurrent infections, Bronchiectasis, Chronic... OMIM:150550
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, Eczematoid dermatitis, Psoriasifor... OMIM:606367
Hypocomplementemic Urticarial Vasculitis
Emphysema, Episcleritis, Pleural effusion, Skin rash, Recurrent bacterial infections, Small vesse... ORPHA:36412
Familial Isolated Restrictive Cardiomyopathy
Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ... ORPHA:75249
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus... ORPHA:244
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Intraalveolar phosph... OMIM:620565
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Recurrent infections, Bronchiectasis, Persistent EBV... OMIM:617514
Immunodeficiency 67
Septic arthritis, Meningitis, Recurrent streptococcal infections, Recurrent staphylococcal infect... OMIM:607676
Yellow Nail Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Sinusitis, Rhinitis, Pleuritis... ORPHA:662
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosu... OMIM:615816
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Fusariosis
Pneumonia, Unusual CNS infection, Keratitis, Invasive fungal infection, Brain abscess, Fasciitis,... ORPHA:228119
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Perianal abscess, Gastritis, Recurrent respirator... OMIM:618108
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ... ORPHA:70588
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo... OMIM:618131
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recurrent bacte... OMIM:603554
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc... OMIM:618523
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections OMIM:202700
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Chronic sinusitis, Chr... OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Sepsis, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic ... OMIM:618986
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... OMIM:614172
Immunodeficiency 92
Pneumonia, Persistent CMV viremia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, BCGosis, R... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 1
Pneumocystis carinii pneumonia, Sepsis, Hepatitis, Enteroviral encephalitis, Sclerosing cholangit... OMIM:308230
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Subpleural interstitial thic... ORPHA:79128
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent bacterial infections, Neutrophilic infiltration of the skin, Recurrent viral infections... OMIM:618048
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Meningitis, Recurrent skin infections, Va... ORPHA:2968
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary ... ORPHA:723
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e... ORPHA:199241
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Otitis media, Recurrent r... ORPHA:1572
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... ORPHA:2357
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Sepsis, Conjunctivitis, Enteroviral dermatomyositis syndrome... OMIM:300755
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Skin rash, Recurrent... ORPHA:331206
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, R... ORPHA:39812
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Sepsis, Eczematoid dermatitis, ... OMIM:616100
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Petechiae, Recurrent bacterial ... OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Bronchitis, Otitis media, Recurrent s... ORPHA:420741
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous a... OMIM:619752
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Congestive heart failure, Pleural effusion, Infectious en... ORPHA:454836
Alpha-Mannosidosis, Adult Form
Pneumonia, Aortic regurgitation, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Otitis ... OMIM:612541
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Nocardiosis
Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost... ORPHA:31204
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibrosis,... OMIM:618394
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Purpura, Pulmonary embolism ORPHA:743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Recurrent infections, Inflammatory abnormality of the skin, Sepsis, Eczematoid dermati... ORPHA:37042
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Tachycardia, Acute infectious pneumonia ORPHA:264675
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusi... OMIM:615067
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Periodontitis, Recurrent otitis media, Recurrent abscess formation, Recurren... OMIM:608233
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... OMIM:615895
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve... ORPHA:1329
Q Fever
Pneumonia, Vasculitis, Unusual infection, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystit... ORPHA:781
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Bronchiectasis, Chronic bronchitis, Sinusitis OMIM:242860
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Sepsis, Cardiomyopathy, Skin rash, Punctate vasculitis sk... ORPHA:247691
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Salmonella osteomyelitis OMIM:209950
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurren... ORPHA:221139
Cystic Fibrosis
Recurrent Burkholderia cepacia infections, Recurrent Aspergillus infections, Nontuberculous mycob... ORPHA:586
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovascularization, Ke... OMIM:158310
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Meningitis, Recu... OMIM:600802
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Bloom Syndrome
Pneumonia, Recurrent infections, Recurrent tonsillitis, Bronchitis, Recurrent urinary tract infec... ORPHA:125
Zygomycosis
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Unusual skin infe... ORPHA:73263
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Chédiak-Higashi Syndrome
Gingival bleeding, Epistaxis, Recurrent infections, Recurrent staphylococcal infections, Periodon... ORPHA:167
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Shock, Palpitatio... ORPHA:340
Chromomycosis
Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Bronchial Neuroendocrine Tumor
Pneumonia, Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Pa... ORPHA:97287
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Abnormality of the pul... ORPHA:90308
Omenn Syndrome
Pneumonia, Sepsis, Erythroderma, Thyroiditis ORPHA:39041
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Recurrent viral infections, Third degree atrioventric... OMIM:619573
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Otitis media OMIM:602450
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypotension, Recurrent viral i... ORPHA:293978
Spondyloenchondrodysplasia
Pneumonia, Vasculitis, Hepatitis, Skin rash, Raynaud phenomenon, Arthritis, Juvenile rheumatoid a... ORPHA:1855
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Recurrent lower respiratory tract infections, Recurrent infections, Pulmona... OMIM:226300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Inflammation of the large intestine, Periodontitis, Abnormal bleeding, Bruising suscep... ORPHA:79259
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis, Lung abscess OMIM:241600
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Tricuspid regurg... OMIM:620233
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Erythema nodosum, Tachycardia, Purpura, Epididymitis, Diffu... ORPHA:99827
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Congenital Syphilis
Pneumonia, Keratitis, Petechiae, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, Macu... ORPHA:499009
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Sepsis, Brain abscess, Conge... ORPHA:533
Coccidioidomycosis
Pneumonia, Vasculitis, Unusual CNS infection, Folliculitis, Vasospasm, Invasive fungal infection,... ORPHA:228123
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections OMIM:300291
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Good Syndrome
Recurrent urinary tract infections, Sinusitis, Recurrent respiratory infections, Recurrent skin i... ORPHA:169105
Chediak-Higashi Syndrome
Periodontitis, Bruising susceptibility, Spontaneous, recurrent epistaxis, Recurrent systemic pyog... OMIM:214500
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Raynaud phenomenon,... OMIM:607944
Immunodeficiency 31C
Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Osteomyelitis, Di... OMIM:614162
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Transient ischemic attack, Abnormal heart valve physiolog... ORPHA:464343
Shigellosis
Pneumonia, Hypovolemic shock, Sepsis, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Co... ORPHA:810
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Aspiration pneumonia ORPHA:79264
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Pulmonary embolism ORPHA:228116
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Purpura, Endocarditis, ... ORPHA:1304
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Atrioventricular block, Inflammatory abnormality of the skin, Dilated cardiomyopathy, ... ORPHA:26793
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... ORPHA:391487
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Vici Syndrome
Dilated cardiomyopathy, Recurrent viral infections, Chronic mucocutaneous candidiasis, Cardiomyop... OMIM:242840
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Pustular rash, Hepatitis, Bronchitis, Recurrent otitis media, Osteomyelitis, Skin rash... OMIM:619381
Behçet Disease
Mitral regurgitation, Meningitis, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestina... ORPHA:117
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Aspiration pneumonia, Tricuspid regurgitation, Left ventricular systolic ... OMIM:619167
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Absence Of The Pulmonary Artery
Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventric... ORPHA:980
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Hypertensive crisis, Brain abscess, Severe viral infection, Respiratory tract infectio... ORPHA:544482
Idiopathic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Pulmonary embolism, Respiratory tract infection ORPHA:567548
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Recurrent bacterial infections, Hyperten... OMIM:232220
Polycythemia Vera
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Bruising susceptib... ORPHA:729
Shwachman-Diamond Syndrome
Pneumonia, Recurrent viral infections, Sepsis, Eczematoid dermatitis, Osteomyelitis, Skin rash, S... ORPHA:811
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Vasculitis, Hematochezia, Hepatitis, Hypertroph... OMIM:615846
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Recurrent upper respiratory tract infections, Recurrent pneumonia, Eczematoid der... OMIM:147060
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Telangiectasia of the skin ORPHA:2176
Cryptococcosis
Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti... ORPHA:1546
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Abnormal bleeding, Interstitial pneumonitis, T... ORPHA:454831
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiomyopathy, Tricu... OMIM:253200
Mercury Poisoning
Hypertension, Tachycardia, Hypotension, Interstitial pneumonitis ORPHA:330021
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Ple... ORPHA:829
Sickle Cell Disease
Recurrent bacterial infections, Hypertension OMIM:603903
Gm1 Gangliosidosis
Cardiomyopathy, Congestive heart failure, Aspiration pneumonia, Infectious encephalitis, Recurren... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Plague
Inflammation of the large intestine, Hypotension, Lymphadenitis, Abnormal bleeding, Chapped lip, ... ORPHA:707
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Sepsis, Pulmonary embolism, Aspiration pneumonia, Arrhythmia, B... ORPHA:94093
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Hennekam-Beemer Syndrome
Pneumonia, Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, Gastrointestinal hemorrhage,... ORPHA:774
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Immunodeficiency 47
Tricuspid regurgitation, Recurrent infections, Recurrent bacterial infections OMIM:300972
Alpha-Mannosidosis, Infantile Form
Pneumonia, Aortic regurgitation, Recurrent urinary tract infections, Mitral regurgitation, Otitis... ORPHA:309282
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Respiratory tract infection, Infectious encephalitis, Pustule,... ORPHA:68
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Pleural effusion, Respiratory tract infect... ORPHA:567546
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Dilated cardiomyopathy, Sepsis, Recurrent urinary tract infections, Pyoderma, Pneumoth... ORPHA:79404
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pleural effusion, Iridocyclitis, Pulmonary arteri... OMIM:181000
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Bruising susceptibility, Em... OMIM:130050
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Keratitis, Eczematoid dermatitis, Episcleritis, Scleritis, Recurrent bacter... ORPHA:2273
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Bradycardia ORPHA:70
Geleophysic Dysplasia 3
Pneumonia, Mitral regurgitation OMIM:617809
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Abnormal bleeding, Recurrent bacterial infections, Membr... ORPHA:470
Cholera
Tachycardia, Hypotension, Hypovolemic shock, Aspiration pneumonia ORPHA:173
Mucopolysaccharidosis Type 3
Atrioventricular block, Recurrent tonsillitis, Aspiration pneumonia, Reduced left ventricular eje... ORPHA:581
Bickerstaff Brainstem Encephalitis
Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Premature ventricular contrac... OMIM:602535
Dyskeratosis Congenita, Autosomal Dominant 1
Budd-Chiari syndrome, Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Cystic Fibrosis
Recurrent pneumonia, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmonary infections, Bron... OMIM:219700
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Aspiration pneumonia ORPHA:79255
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Aspiration pneumonia ORPHA:99027
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Degcags Syndrome
Pneumonia, Recurrent infections, Recurrent urinary tract infections, Pulmonary arterial hypertens... OMIM:619488
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Osteoarthritis ORPHA:2298
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections ORPHA:397715
Hereditary Sensory And Autonomic Neuropathy Type 4
Bruising susceptibility, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfu... ORPHA:642
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Sepsis, Skin rash, Keratoconjunctivit... ORPHA:95455
Coffin-Siris Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Aortic valve stenosis, Recurrent urinary tract infections, Otitis media, Cardiac condu... ORPHA:353281
Liver Disease, Severe Congenital
Pneumonia, Sepsis, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis me... OMIM:619991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Pulmonary arterial hyperten... ORPHA:280633
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Conju... OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Pulmonary arterial hypertension, Aspiration pneumonia ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia, Aspiration pneumonia OMIM:619482
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aortic valve stenosis, Recurrent urinary tract infections, Otitis media, Cardiac condu... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aortic valve stenosis, Recurrent urinary tract infections, Otitis media, Cardiac condu... ORPHA:353277
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Multiple Osteochondromas
Pneumothorax, Hemothorax, Arthritis ORPHA:321
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Pneumothorax, Pulmonary arterial hypertension, Recurrent aspiration pneu... OMIM:612289
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Semilobar Holoprosencephaly
Abnormal heart rate variability, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart rate variability, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart rate variability, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart rate variability, Aspiration pneumonia ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Recurrent infections OMIM:147920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Pulmonic stenosis, Aspiration pneumonia ORPHA:438213
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Abnormal pulmonary interstitial morphology, Interstitial pneumonitis ORPHA:77293
Doors Syndrome
Aspiration pneumonia ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Yunis-Varon Syndrome
Heart murmur, Pulmonary arterial hypertension, Cardiomyopathy, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Hypertrophic cardiomyopathy, Angina pectoris, Intracranial hemorrhage, Peri... 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.

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
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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