Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sialic acid binding Ig-like lectin F
Synonyms:
Siglec5,  mSiglec-F

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Siglecf 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 Siglecf by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal eosinophil morphology, Abnormal pattern of respiration, ... ORPHA:724
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology ORPHA:2582
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurren... OMIM:618282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis OMIM:234350
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:243700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased... ORPHA:169160
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Recurrent sinopulmon... OMIM:147060
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Esophagitis, Eosinophilic, 1
Esophagitis, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Eosinophilia OMIM:613412
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Eosinophilic Fasciitis
Eosinophilia, Myositis, Abnormal eosinophil morphology, Fasciitis, Arthritis ORPHA:3165
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Decreased proporti... ORPHA:169154
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, B lymp... OMIM:601457
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Erythroderma, B lymphocy... OMIM:603554
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Wells Syndrome
Eosinophilia ORPHA:901
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Recurrent pneumonia, Reduced red cell adenosine deaminase level, Pneumonia, Sinusit... OMIM:102700
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Asthma, Colonic eosinophilia, Membranous nephropathy, Atopic de... OMIM:618999
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis OMIM:253600
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Pneumonia, Stomatitis, Lymphadenitis, Colitis, Autoimmune throm... ORPHA:911
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Anemia, Arthritis, Skin rash OMIM:607115
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atop... ORPHA:217390
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Recurrent... ORPHA:90045
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointers... ORPHA:139402
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Decreased circulat... ORPHA:353298
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Asthma, Erythroderma, Allergic rhinitis, Incr... OMIM:256500
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia OMIM:618092
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA... ORPHA:555905
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Asthma, Abscess, ... OMIM:615816
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Asthma, Anemia, Allergic rhinitis, Atopic dermatitis ORPHA:2070
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Pneumonia, Splenomegaly, Anemia, Thyr... ORPHA:39041
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Immunodeficiency 49
Eosinophilia, Lymphopenia, Pulmonary artery stenosis, Inflammatory abnormality of the skin OMIM:617237
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Increased circulating IgG4 level, Increased inflammatory response, Inc... ORPHA:449400
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Eczema OMIM:616651
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrope... ORPHA:238459
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Cough, Eczema, Osteomyelitis, Atelectasis, Recurrent respiratory infections, Chroni... ORPHA:2314
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Pulmonary pneumatocele, Recurrent upper res... OMIM:619752
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunc... OMIM:158310
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiecta... OMIM:242700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Decre... OMIM:240500
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Sinusitis, Recurrent intrapulmonary hemorrhage, Myositis, Asthma, Increased inflamm... ORPHA:183
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Recurrent upper respiratory tract infections, D... OMIM:616100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumoni... OMIM:600802
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Tularemia
Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous abscess, Inflammatory abnormality of the eye... ORPHA:3392
Cystic Echinococcosis
Eosinophilia, Asthma, Pulmonary cyst, Multiple pulmonary cysts, Increased circulating antibody le... ORPHA:400
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neut... ORPHA:36238
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:608647
Loeffler Endocarditis
Eosinophilia, Dyspnea, Cough, Pericarditis ORPHA:75566
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:615482
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Otitis media, Abnormal platelet morphology, Hypoplasia of... ORPHA:906
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Microlissencephaly
Pneumonia ORPHA:1083
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Dyspnea, Nep... ORPHA:449427
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Decreased circulating antibody level, Erythroderma OMIM:617425
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglobulinemia, Otitis media, ... OMIM:602450
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Recurrent bronchitis, Bronchiectasis, Recurrent s... OMIM:617091
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Bronchiectasis, Productive cough,... OMIM:618699
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid... ORPHA:183675
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Decreased proportion of C... ORPHA:276
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Agammaglobulinemia, Cough, Bronchiectasis, Neutr... ORPHA:33110
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Coccidioidomycosis
Pancreatitis, Exudative pleural effusion, Skin rash, Cough, Osteomyelitis, Granuloma, Pericarditi... ORPHA:228123
Melioidosis
Pneumonia, Lung abscess, Cutaneous abscess, Parotitis, Prostatitis, Osteoarthritis, Respiratory t... ORPHA:31202
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Recurrent respiratory infecti... OMIM:616005
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormality of the skin, Pancreatiti... ORPHA:449395
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Scleroderma
Hypereosinophilia, Uveitis, Myocarditis, Fasciitis, Episcleritis, Dyspnea, Osteomyelitis, Pulmona... ORPHA:801
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Autoimmune thrombocytopenia, ... OMIM:613179
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Alveolar Echinococcosis
Eosinophilia, Cutaneous abscess, Cholangitis, Pulmonary cyst, Abnormal spleen morphology, Cough, ... ORPHA:284
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Inflammatory abnormality of the skin, Pancreatitis, Throm... ORPHA:3260
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Autoimmune thrombocytopenia, Au... OMIM:615952
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:1572
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Cholangitis, Bronchiectasis, Recurrent respiratory i... OMIM:615207
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritoniti... ORPHA:228119
Lymphatic Filariasis
Restrictive ventilatory defect, Hypereosinophilia, Lymphadenitis, Orchitis, Knee osteoarthritis, ... ORPHA:2035
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Cholangitis, Orchitis, Increased circulating IgG4 level, Prostatitis, Th... ORPHA:449563
Acute Lung Injury
Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Hypoxemia, Tachypnea, Respiratory fai... ORPHA:178320
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Pro... ORPHA:449432
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Recurrent upper respiratory tract infections, C... OMIM:618131
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hypereosinophilia, Decre... ORPHA:508533
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Immunodeficiency 43
Recurrent respiratory infections, Decreased circulating IgG level, Bronchiectasis OMIM:241600
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Decreased circulating antibody level, Dyspnea, Abnor... ORPHA:169105
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Hashimoto thyroiditis, Hepatitis, Macrocytic anemia ORPHA:199299
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Avian Influenza
Nonproductive cough, Leukopenia, Hypoxemia, Pneumonia, Infectious encephalitis, Tachypnea, Respir... ORPHA:454836
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Tachypnea, Hepatitis, Fasciitis, Thrombocytopenia, Skin ra... ORPHA:36234
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Pancreatitis, Abnormal blood gas level, Pulmo... ORPHA:70578
Sarcoidosis
Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Thrombocytopenia, Emphysema, Le... ORPHA:797
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Decreased circulating antibody level, Anemia, Seb... OMIM:274000
Dermatomyositis
Myocarditis, Abnormal eosinophil morphology, Lung adenocarcinoma, Pulmonary arterial hypertension... ORPHA:221
Thymic Aplasia
Sinusitis, T lymphocytopenia, Pneumonia, Chronic oral candidiasis, Coombs-positive hemolytic anem... ORPHA:83471
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Splenomegaly, Anemia, Apnea, Thrombocytopenia OMIM:230900
Incontinentia Pigmenti
Eosinophilia, Uveitis, Infectious encephalitis, Pulmonary arterial hypertension, Keratitis, Skin ... ORPHA:464
Incontinentia Pigmenti
Keratitis, Eosinophilia, Leukocytosis, Uveitis OMIM:308300
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Q Fever
Hepatosplenomegaly, Pneumonia, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, S... ORPHA:781
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusi... ORPHA:244
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, ... ORPHA:420741
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pneumonia, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody level, Iron deficie... OMIM:226300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Recu... ORPHA:79124
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Leukocyte Adhesion Deficiency
Recurrent aphthous stomatitis, Vaginitis, Abnormality of neutrophil physiology, Otitis media, Con... ORPHA:2968
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Pulmonary arterial hypertension, Neoplasm of the lung,... ORPHA:662
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Graft Versus Host Disease
Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hemophagocytosis, Inflamm... ORPHA:39812
Nocardiosis
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Recurrent otitis media, Recurrent upper resp... ORPHA:293978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Uveitis, Pneumonia, Acute myelo... ORPHA:125
Shwachman-Diamond Syndrome
Pancytopenia, Sinusitis, Leukopenia, Normocytic anemia, Leukemia, Bone marrow hypocellularity, Im... ORPHA:811
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Chronic otitis media, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Pneumonia ORPHA:319552
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent otitis media, Pneumonia, Restrictive ventilatory defect, Autoimmune ... OMIM:607944
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Listeriosis
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Infectious encephalitis, Myocarditis, O... ORPHA:533
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Reduced natural kille... OMIM:619381
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Decreased circulating IgG level, Leukemia, Defective B cell differe... OMIM:208900
Shigellosis
Leukocytosis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Peritonitis, Myocarditis, Acute ... ORPHA:810
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Bron... ORPHA:97287
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Spondyloenchondrodysplasia
Pancytopenia, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Granuloma, Hep... ORPHA:1855
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Interstitial pneumonitis, Thrombocytopenia, Anemia, Pulmonary fibros... OMIM:127550
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating total IgG, Decre... ORPHA:221139
Zygomycosis
Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Infectious encephalitis, Myocardi... ORPHA:73263
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Pneumonia ORPHA:309288
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Fanconi Anemia, Complementation Group F
Leukopenia, Bone marrow hypocellularity, Pneumonia, Anemia, Thrombocytopenia OMIM:603467
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Cough, Pleural effusion, Lymphoid leukemia, Dyspnea, Osteomy... ORPHA:1546
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Abnormality of T cel... OMIM:181000
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Nijmegen Breakage Syndrome
Sinusitis, T lymphocytopenia, Recurrent pneumonia, Dysgammaglobulinemia, Autoimmune hemolytic ane... OMIM:251260
Viss Syndrome
Emphysema, Hypereosinophilia, Increased circulating IgG level, Asthma, Pulmonary artery aneurysm,... OMIM:619472
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly, Dyspnea, Orthopnea, Pulmonary venous hypertension ORPHA:75565
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Pneumonia, Normocytic anemia, Skin rash ORPHA:247691
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Pneumonia, Myocarditis, Respiratory tract infection, Acute colitis, Dyspnea, Pleura... ORPHA:544482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Infectious encephalitis, Autoim... ORPHA:391487
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Postinfectious Vasculitis
Viral hepatitis, Pneumonia, Gastrointestinal inflammation, Orchitis, Increased circulating IgA le... ORPHA:48435
Insulin-Resistance Syndrome Type B
Leukopenia, Pneumonia, Increased circulating IgG level, Increased circulating IgA level, Osteoart... ORPHA:2298
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Aspiration pneumonia, Thrombocytopenia OMIM:617053
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Leukocytosis, Pneumonia, Respiratory failure, Glomerulonephri... ORPHA:340
Cushing Disease
Recurrent cutaneous fungal infections, Leukocytosis, Decreased eosinophil count, Acne, Lymphopenia ORPHA:96253
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Gm1 Gangliosidosis
Hepatosplenomegaly, Infectious encephalitis, Splenomegaly, Recurrent respiratory infections, Aspi... ORPHA:354
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Inflammatory abnormality of the skin ORPHA:26793
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Cystic Fibrosis
Recurrent pneumonia, Hepatosplenomegaly, Reduced forced expiratory volume in one second, Asthma, ... OMIM:219700
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Respiratory tract infection, Increased red blood c... ORPHA:68
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hypertension, Exe... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arteri... ORPHA:99103
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Mucopolysaccharidosis Type 3
Splenomegaly, Respiratory tract infection, Obstructive sleep apnea, Upper airway obstruction, Oti... ORPHA:581
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Cornelia De Lange Syndrome 1
Thrombocytopenia, Otitis media, Pneumonia OMIM:122470
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Pulmonary embolism, Aspiration pneumonia, Thrombocytopenia ORPHA:94093
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Otitis media, Pneumonia ORPHA:309282
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Leukocytosis, Decreased eosinophil count, Acne, Small cell... ORPHA:99889
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Pneumonia, Asthma, T... OMIM:619488
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Splenomegaly, Inflammation ... ORPHA:707
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Niemann-Pick Disease Type C
Aspiration pneumonia, Hepatosplenomegaly, Respiratory failure, Splenomegaly, Bone-marrow foam cel... ORPHA:646
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Asthma, Sleep apnea, Pulmonary arterial hypertension, Chronic lung disease, Aspir... ORPHA:444077
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis media ORPHA:353281
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Tooth abscess, Anemia, Osteomyelitis, Fasciitis, Septic arthritis... ORPHA:642
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Anemia, Obstructive sleep apnea, Breathing dysregulation, A... ORPHA:438213
Semilobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93924
Doors Syndrome
Thrombocytosis, Aspiration pneumonia, Respiratory distress ORPHA:79500
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory insufficiency, Recurrent aspiration pn... OMIM:612289
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Hemolytic anemia, Recurrent otitis m... OMIM:147920
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Respiratory distress, Pericarditis ORPHA:79318
Yunis-Varon Syndrome
Pulmonary arterial hypertension, 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 Siglecf

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 Siglecf.

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

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MGI Allele Allele Type Produced
Siglecftm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Siglecftm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Siglecftm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Siglecftm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Siglecftm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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