Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Copa MGI:1334462

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

coatomer protein complex subunit alpha

Synonyms:

xenin

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 Copa 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.

Human diseases associated with Copa (1 diseases)
Human diseases predicted to be associated with Copa (550 diseases)

The table below shows human diseases associated to Copa by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoimmune Interstitial Lung, Joint, And Kidney Disease		Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Elevated circulating...	OMIM:616414

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

Disease	Matching phenotypes	Source
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 51	Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia...	OMIM:613953
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia, Pulmonary fibrosis	OMIM:620400
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti...	OMIM:615518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Ulcerative colitis, Panc...	OMIM:618394
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Plasmacytosis	ORPHA:60026
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Iron deficiency anemia	OMIM:178550
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio...	ORPHA:133
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm...	OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Recurrent respiratory infections, Abnormal B cell count, Chronic decreased...	OMIM:613495
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Skin r...	OMIM:617585
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R...	OMIM:615513
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis...	OMIM:620565
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia, Pulmonary...	OMIM:614743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c...	OMIM:618459
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema nodosum, Abnormal pulmonary int...	OMIM:612387
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A...	OMIM:614742
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop...	OMIM:618935
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary interstitial m...	OMIM:607616
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Increased circulating ferritin concentration, Hepatosplenomegaly, Ab...	ORPHA:210136
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Recurrent sinopulmonary infections, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency 15A	Decreased proportion of memory B cells, Cutaneous abscess, Chronic mucocutaneous candidiasis, Acn...	OMIM:618204
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo...	OMIM:619126
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Systemic Capillary Leak Syndrome	Pleural effusion, Leukocytosis, Pulmonary edema, Pancreatitis, Myocarditis, Pedal edema, Pericard...	ORPHA:188
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Immunodeficiency 50	Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent respiratory infections, Decreased circ...	OMIM:300988
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis	OMIM:620365
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
High Altitude Pulmonary Edema	Pulmonary edema, Leukocytosis	ORPHA:330012
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th...	ORPHA:277
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si...	ORPHA:217390
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Elevated circulating...	OMIM:616414
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu...	OMIM:615617
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Thrombocytosis, Anemia, Abnormal pulmonary interstitial ...	OMIM:615486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:619220
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Recurrent respiratory ...	ORPHA:79124
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Abnormal circulating protein concentration, Intraalveolar phospholipid accu...	ORPHA:747
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Pustule, Myositis, Increased circu...	OMIM:615934
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Pulmon...	OMIM:618165
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si...	ORPHA:397596
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration	ORPHA:930
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal...	OMIM:226990
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Decre...	OMIM:193670
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Edema, L...	ORPHA:2302
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Pleural effus...	ORPHA:2902
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Pulmonary fibrosis, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo...	OMIM:619644
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Diffuse Alveolar Hemorrhage	Leukocytosis, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemia, Pulmonary ...	ORPHA:90060
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Impaire...	OMIM:608184
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis	ORPHA:70578
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Decrease...	OMIM:615952
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Usual interstitial pneumonia, Increased mean corpuscular volume, Splenomegaly, Cholecystitis, Thr...	OMIM:620367
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,...	OMIM:619752
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, I...	ORPHA:229717
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Joint swelling, Neutrophilia, Elevated ...	OMIM:612852
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi...	OMIM:300755
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis, Absent platelet dense granules	OMIM:614073
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B lymphocytopenia, Colit...	OMIM:619164
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Preeclampsia	Pulmonary edema, Thrombocytopenia	ORPHA:275555
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int...	OMIM:619281
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Antisynthetase Syndrome	Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjun...	ORPHA:81
Mixed Connective Tissue Disease	Xerostomia, Leukopenia, Pleuritis, Splenomegaly, Skin rash, Joint swelling, Myositis, Gastritis, ...	ORPHA:809
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Mogs-Cdg	Decreased circulating IgG level, Generalized edema, Hepatosplenomegaly, Decreased circulating IgA...	ORPHA:79330
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymph...	OMIM:618495
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:618695
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Microlissencephaly	Pneumonia	ORPHA:1083
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Pedal edema	ORPHA:330001
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Panacina...	OMIM:613490
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros...	OMIM:610978
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Leukocytosis, Otitis media, Increa...	ORPHA:3392
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytop...	OMIM:613989
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ...	ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Familial Isolated Restrictive Cardiomyopathy	Pulmonary edema, Recurrent respiratory infections, Peripheral edema	ORPHA:75249
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Abn...	OMIM:181000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb...	ORPHA:238459
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	ORPHA:470
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Elevated circula...	OMIM:620321
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti...	OMIM:604571
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai...	OMIM:620032
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Elevated circulating C-reactive protein concentration, Ab...	ORPHA:178320
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Oligohydramnios, Abnormal pulmonary inter...	OMIM:619013
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac...	ORPHA:79128
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Stomatitis	OMIM:618307
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema	ORPHA:64739
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon...	ORPHA:723
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Cut...	OMIM:243700
Fusariosis	Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia...	ORPHA:228119
Common Variable Immunodeficiency	Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Decreased circulating antibody level, Re...	ORPHA:1572
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ...	ORPHA:486
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, ...	OMIM:618278
Hellp Syndrome	Generalized edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin conce...	ORPHA:244242
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in response to m...	ORPHA:169154
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Peripheral edema, Pulmona...	ORPHA:57777
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Increased inflammatory response, Pleural effusion, Skin rash	ORPHA:542323
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf...	OMIM:307200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Immunodeficiency 89 And Autoimmunity	Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ...	OMIM:619632
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron...	OMIM:615505
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu...	OMIM:263000
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Pulmonary fibrosis	ORPHA:457240
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec...	OMIM:615504
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Polyhydramnios, Pulm...	OMIM:607625
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Pulmonary fibrosis	OMIM:224230
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiectasis, Chronic rhi...	OMIM:618801
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Braddock Syndrome	Pulmonary fibrosis	ORPHA:52047
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, Chronic mucocutaneous candi...	OMIM:102700
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re...	OMIM:613179
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Primary Ciliary Dyskinesia	Nasal polyposis, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Resp...	ORPHA:244
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:614868
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Pleural effusion...	OMIM:620233
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Typhoid	Skin rash, Abnormal pulmonary interstitial morphology, Splenomegaly, Infectious encephalitis	ORPHA:99745
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti...	OMIM:613807
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhiniti...	OMIM:244400
Chitayat Syndrome	Polyhydramnios, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron...	OMIM:613193
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Autosomal Agammaglobulinemia	Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutrop...	ORPHA:33110
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Melioidosis	Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Polymyositis	Elevated circulating creatine kinase concentration, Arthritis, Abnormal pulmonary interstitial mo...	ORPHA:732
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Omenn Syndrome	Pneumonia, Edema, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Eryth...	ORPHA:39041
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt...	OMIM:603554
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Recurrent lower respirato...	OMIM:308230
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic...	OMIM:614679
Japanese Encephalitis	Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Neutrophilia, Cer...	ORPHA:79139
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Decr...	ORPHA:83471
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,...	OMIM:613808
Q Fever	Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Splenomegal...	ORPHA:781
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Cardiomyopathy, Familial Hypertrophic, 4	Pulmonary edema, Pericardial effusion, Ascites	OMIM:115197
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Amyloidosis, Hereditary Systemic 1	Pulmonary edema	OMIM:105210
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen...	OMIM:614935
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor...	OMIM:617091
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Joint swelling, Anemia, Abnormal pulmonary interstiti...	ORPHA:35687
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infec...	ORPHA:454836
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Abnormal pulmonary interstit...	OMIM:230800
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Erythrod...	ORPHA:3260
Ciliary Dyskinesia, Primary, 32	Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro...	OMIM:616481
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Granulomatosis With Polyangiitis	Periorbital edema, Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflam...	ORPHA:900
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Abnormal pleura morphology, Recurrent aphthou...	ORPHA:29207
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms	OMIM:614017
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Peripheral edema,...	ORPHA:60025
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chroni...	OMIM:617092
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch...	OMIM:608647
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Elevated circulating creatine kinase concentration	OMIM:620326
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Increased circulating ferritin concentratio...	ORPHA:77259
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Diffuse Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Xerostomia, Arthritis	ORPHA:220393
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Seizures, Cortical Blindness, And Microcephaly Syndrome	Bronchiectasis	OMIM:616632
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Leukocytosis, Pulmonary edema, Glomerulonephritis, Thrombocytopenia,...	ORPHA:340
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni...	OMIM:612650
Overlap Myositis	Rheumatoid arthritis, Leukopenia, Elevated circulating creatine kinase concentration, Arthritis, ...	ORPHA:206572
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:611884
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Splenomegaly, Neutr...	OMIM:617050
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Immune-Mediated Necrotizing Myopathy	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Myocarditis, Abnormal pu...	ORPHA:206569
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respira...	OMIM:616037
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Abnormal circulating protein concentration, Elevated circulating carcinoemb...	ORPHA:264675
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti...	OMIM:618131
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Sarcoidosis	Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia...	ORPHA:797
Glycogen Storage Disease Of Heart, Lethal Congenital	Anasarca, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Pericardial effusion	OMIM:261740
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Aspiration pneumonia	ORPHA:90117
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Lymphocy...	ORPHA:289390
Good Syndrome	Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Re...	ORPHA:169105
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Recurrent aspiration pneumonia	OMIM:619971
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis	OMIM:203300
Immunodeficiency 56	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron...	OMIM:615207
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Reduced delayed hypersensitivity, Malar rash, Autoimmune hemolytic anemia, Splenomegal...	OMIM:603909
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Bronchiectasis, Pedal ede...	ORPHA:980
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, A...	OMIM:301000
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Polyhydramnios	ORPHA:596
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Impaired arachidonic acid-induced platelet aggregat...	OMIM:614075
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos...	ORPHA:139402
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen...	OMIM:615444
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Nasal mucosa vasculitis, Episcleritis, Localized pulmonar...	OMIM:608710
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia	OMIM:612199
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m...	OMIM:618063
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Increased circulating ferritin concentration, Interstitia...	ORPHA:829
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Xerostomia, Peripheral edema, Increased circulating antibod...	ORPHA:85443
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Elevated circulating C-re...	OMIM:619381
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Diarrhea 12, With Microvillus Atrophy	Bronchiectasis, Respiratory tract infection	OMIM:619445
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Recurrent pneumonia, Pulmonary fibrosis, Recurrent re...	ORPHA:209905
Gaucher Disease	Splenic infarction, Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Pancy...	ORPHA:355
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Abnor...	ORPHA:77261
Juvenile Dermatomyositis	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Elevated circ...	ORPHA:93672
Ethylene Glycol Poisoning	Pulmonary edema, Cerebral edema, Gastritis	ORPHA:31826
Cocaine Intoxication	Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentration, Pulmonary edema,...	ORPHA:90068
Systemic Sclerosis	Osteomyelitis, Recurrent skin infections, Joint swelling, Elevated circulating creatine kinase co...	ORPHA:90291
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Nasal polyposis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:620197
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin...	OMIM:615816
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Myositis, Peritonitis, Art...	ORPHA:36234
Hermansky-Pudlak Syndrome	Pulmonary fibrosis, Neutropenia	ORPHA:79430
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Bronchiectasis, Otitis media, Sinusitis, Recurrent respiratory infections, Absen...	OMIM:606763
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Lymphocytic interstitial pneumonia	OMIM:245590
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro...	ORPHA:3384
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis	OMIM:618648
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Ogden Syndrome	Peripheral pulmonary artery stenosis, Polycythemia, Eczematoid dermatitis, Lymphedema, Recurrent ...	OMIM:300855
Mitochondrial Complex I Deficiency, Nuclear Type 33	Oligohydramnios, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:305000
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pneumothorax, Pleural effusion, Bronchiectasis	ORPHA:411703
Tako-Tsubo Cardiomyopathy	Pulmonary edema, Abnormal circulating B-type natriuretic peptide concentration, Mildly elevated c...	ORPHA:66529
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Liver Disease, Severe Congenital	Pneumonia, Eczematoid dermatitis, Increased circulating ferritin concentration, Recurrent otitis ...	OMIM:619991
Dermatomyositis	Periorbital edema, Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Lung adenocarcinom...	ORPHA:221
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pulmonary edema, Pericardial effusion	ORPHA:73224
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Cheilitis, Bronchitis, Decreased circulating IgA leve...	ORPHA:125
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:66628
Bronchial Neuroendocrine Tumor	Pneumonia, Abnormal pulmonary interstitial morphology	ORPHA:97287
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:179494
Kikuchi-Fujimoto Disease	Palpebral edema, Leukopenia, Malar rash, Pleural effusion, Splenomegaly, Skin rash, Pustule, Myoc...	ORPHA:50918
Yellow Nail Syndrome	Lymphedema, Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neo...	ORPHA:662
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Abnorm...	ORPHA:293978
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Scorpion Envenomation	Pulmonary edema, Increased circulating creatine kinase MB isoform, Increased circulating NT-proBN...	ORPHA:466677
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Bronchitis, Emphysema, Pannicul...	ORPHA:60
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Conjunctivitis, Leukocytosis, Skin rash, Cholecystitis, Recurrent pha...	ORPHA:2331
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otitis media	ORPHA:169090
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Joint swelling, Recurrent s...	OMIM:607944
Histiocytoid Cardiomyopathy	Pulmonary edema	ORPHA:137675
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly...	ORPHA:2072
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Immunodeficiency 31C	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Chronic mucocu...	OMIM:614162
Nocardiosis	Pneumonia, Brain abscess, Cutaneous abscess, Lymphadenitis, Keratitis, Emphysema, Osteomyelitis, ...	ORPHA:31204
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Leukopenia, Polyhydramnios, Thrombocytopenia, Anemia	OMIM:603467
Shigellosis	Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni...	ORPHA:810
Timothy Syndrome	Pneumonia, Bronchitis	OMIM:601005
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Chronic rhinitis	OMIM:617577
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni...	ORPHA:811
Cryptococcosis	Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatitis, Perit...	ORPHA:1546
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis	OMIM:620080
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Pancreatitis, ...	ORPHA:499009
Aicardi-Goutieres Syndrome 7	Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Coccidioidomycosis	Pneumonia, Folliculitis, Granuloma, Exudative pleural effusion, Abnormality of the spleen, Morbil...	ORPHA:228123
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Polyhydramnios, Edema	ORPHA:98905
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Ascites, Hepatosplenomegaly, Nodular p...	ORPHA:333
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Generalized edema, Brain abscess, Edema, Pleuritis, Leukocytosis, Respiratory tract in...	ORPHA:544482
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Listeriosis	Pneumonia, Arteritis, Brain abscess, Septic arthritis, Osteomyelitis, Pyelonephritis, Abscess, Ch...	ORPHA:533
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Arthritis,...	ORPHA:1855
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Pleural effusi...	ORPHA:73263
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Anasarca, Emphysema, Ascites, Pancytopenia, Oligohydramnios, Anemia, Abnormal pu...	OMIM:613658
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Dehydration	ORPHA:3337
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis	OMIM:615434
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona...	OMIM:619708
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Normocytic anemia, Macular edema, Skin rash, Normochromic anemia	ORPHA:247691
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Autoimmune hemolytic anemia, D...	OMIM:251260
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema	OMIM:220111
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Hypoalbuminemia, Leukopenia, Skin rash, Increased circulating IgA level, Th...	ORPHA:2298
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytopenia, Acute promyelocytic leuk...	ORPHA:77293
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia...	OMIM:242840
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev...	ORPHA:48435
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Chronic Graft Versus Host Disease	Xerostomia, Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Pleural effusion, Pne...	ORPHA:99921
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia	OMIM:230900
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:210900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentrati...	ORPHA:26793
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo...	OMIM:233450
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir...	ORPHA:354
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Cystic Fibrosis	Recurrent pneumonia, Nasal polyposis, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recurr...	OMIM:219700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia	OMIM:619167
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc...	ORPHA:68
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Aspiration pneumonia	ORPHA:95232
Geleophysic Dysplasia 3	Pneumonia, Polyhydramnios	OMIM:617809
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hydrops fetalis, Aspiration pneumonia	ORPHA:79255
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Chops Syndrome	Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Neuroleptic Malignant Syndrome	Aspiration pneumonia, Leukocytosis, Elevated circulating creatine kinase concentration, Thrombocy...	ORPHA:94093
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia	OMIM:301072
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia	ORPHA:1018
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ...	OMIM:130050
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia	ORPHA:90790
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dehydration, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Recurrent ...	ORPHA:79404
Velocardiofacial Syndrome	Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Impaired T cell function	OMIM:192430
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Splenomegaly	OMIM:253200
Cholera	Dehydration, Aspiration pneumonia	ORPHA:173
Alpha-Mannosidosis, Infantile Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Otitis media	ORPHA:309282
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia	ORPHA:73230
Proximal Spinal Muscular Atrophy	Recurrent infections due to aspiration, Recurrent aspiration pneumonia	ORPHA:70
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media, Thrombocytopenia	OMIM:122470
Mucopolysaccharidosis Type 3	Aspiration pneumonia, Splenomegaly, Otitis media, Respiratory tract infection, Recurrent sinopulm...	ORPHA:581
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Enteroc...	ORPHA:707
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia	ORPHA:845
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Xerostomia, Skin rash, Keratoconjunct...	ORPHA:95455
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, ...	ORPHA:646
Cystic Fibrosis	Nasal polyposis, Pneumothorax, Sinusitis, Recurrent lower respiratory tract infections, Recurrent...	ORPHA:586
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Pedal edema	ORPHA:99103
Degcags Syndrome	Pneumonia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Polyhydramnios, Abnormal spleen morpholo...	OMIM:619488
Digeorge Syndrome	Recurrent pneumonia, Atelectasis, Impaired T cell function, Recurrent otitis media, Splenomegaly,...	OMIM:188400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function	OMIM:201100
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Recurrent aspiration pneumonia	OMIM:247200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent aspiration pneumonia, Recurrent respiratory infections	ORPHA:397715
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
22Q11.2 Deletion Syndrome	Atelectasis, Abnormal lung lobation, Impaired T cell function, Splenomegaly, Hypoplasia of the th...	ORPHA:567
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Marshall-Smith Syndrome	Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia	OMIM:602535
Congenital Fiber-Type Disproportion Myopathy	Polyhydramnios, Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Increased nuchal translucency, Recurrent aspiration pneumon...	ORPHA:280633
Hereditary Sensory And Autonomic Neuropathy Type 4	Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth abscess, Anemia, Recurrent aspiration ...	ORPHA:642
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia	ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent respiratory infections, Otitis media	ORPHA:353281
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Hypoplasia of the thymus, Recurrent respiratory infections	OMIM:264090
Arboleda-Tham Syndrome	Recurrent respiratory infections, Recurrent otitis media, Upper eyelid edema, Conjunctivitis, Rec...	OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Aspiration pneumonia	ORPHA:444077
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501
Doors Syndrome	Polyhydramnios, Thrombocytosis, Aspiration pneumonia	ORPHA:79500
Kabuki Syndrome 1	Recurrent otitis media, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Hemolytic an...	OMIM:147920
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent respiratory infections, Polyhydramnios, Otitis media	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent respiratory infections, Polyhydramnios, Otitis media	ORPHA:353277
Fontaine Progeroid Syndrome	Recurrent aspiration pneumonia, Pneumothorax, Oligohydramnios, Pulmonary hypoplasia	OMIM:612289
Semilobar Holoprosencephaly	Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Aspiration pneumonia	ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Aspiration pneumonia	ORPHA:438213
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis, Abnormality of T cell physiology	ORPHA:2237
Pmm2-Cdg	Hypoalbuminemia, Anasarca, Aspiration pneumonia, Lymphedema, Reduced thyroxin-binding globulin, I...	ORPHA:79318
Yunis-Varon Syndrome	Polyhydramnios, Hydrops fetalis, Aspiration pneumonia	OMIM:216340

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 Copa

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 Copa.

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

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
Copa^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Copa^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us