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Gene: Lpar2 MGI:1858422

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lysophosphatidic acid receptor 2
Synonyms:
Edg4,  LPA2

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 Lpar2 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 Lpar2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Increased c... OMIM:618982
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Increased circulating IgE l... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Recurr... OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Decreased circulating IgG level, Recurrent upper respirat... OMIM:619752
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Increased circulating IgE level, ... ORPHA:217390
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis OMIM:616069
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Recurrent viral upper respiratory tr... OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis OMIM:618985
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop... OMIM:615513
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Sinusitis OMIM:312863
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level ORPHA:90368
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Atopic dermatitis, Recurrent lower respiratory tract infections,... OMIM:620603
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Recurrent lower respiratory tract infections, Increased circulating IgG l... OMIM:619220
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
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 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ... ORPHA:178320
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... ORPHA:70578
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis, Panhypogammaglobulinemia OMIM:269840
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Emphysema, Skin rash, Erythroderma, Recur... ORPHA:634
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Hepatitis, Abnormal circulati... OMIM:308230
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... OMIM:178500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Chronic sinusitis, Arthr... ORPHA:397596
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Decreased specific anti... ORPHA:70593
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Hypersensitivi... ORPHA:2902
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas... OMIM:614069
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Decreased lymphocyt... OMIM:606367
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Recurren... OMIM:616576
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... OMIM:301082
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent sinusitis, Agammaglob... OMIM:619707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Decreased circulating antibody level, Reduc... OMIM:615206
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Bone marrow hypocellul... ORPHA:443811
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
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
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Decreased ... ORPHA:436159
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit... OMIM:300853
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Increased circ... OMIM:602450
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent... OMIM:300755
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteomyelitis, Skin rash, Re... ORPHA:2314
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Recurrent upper respiratory tract inf... OMIM:615758
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... OMIM:618534
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... OMIM:304790
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Young Syndrome
Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Bronchiectasis, Rec... OMIM:279000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... ORPHA:90280
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... OMIM:620565
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Increased circ... ORPHA:37042
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Sinusitis, Recurrent respira... OMIM:226990
Immunodeficiency 27A
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Increased circulating IgG l... OMIM:209950
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Eosinophilic infiltration of the esophagus, Decrease... OMIM:618213
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Immunodeficiency 56
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron... OMIM:615207
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Defective T cell proliferation, Decreased c... OMIM:617514
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased circulating an... ORPHA:3392
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media OMIM:266265
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Decrease... OMIM:614700
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Chronic bronchitis, Sinusitis, Increased circulating ... OMIM:242860
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Recurrent respiratory infections, Lympho... OMIM:618495
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent sinusitis, Increa... OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte p... OMIM:600802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Lymphadenitis, Decreased lymphocyte prolife... OMIM:618986
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... OMIM:615451
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Co... ORPHA:33110
Bronchiolitis Obliterans
Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis ORPHA:1303
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Decreased circulating antibody level, Fulminant hepatitis, Infec... OMIM:308240
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Decreased lymphocyte apoptosis, Increased circulating antibody ... OMIM:614470
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm... OMIM:601495
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449432
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Skin rash, Tubulointerstitial n... ORPHA:330015
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Decreased circul... OMIM:620321
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... OMIM:619705
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re... ORPHA:229717
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis OMIM:615561
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:616005
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Infectious encephalitis, P... OMIM:307200
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615505
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Cutaneous abscess, ... ORPHA:331235
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Abnormal circulating interleukin concentration, Arthritis, Symmetric polyarthritis ORPHA:85435
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve... ORPHA:449563
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Caffey Disease
Increased circulating antibody level ORPHA:1310
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Pulmonary cyst, Recurrent upper respiratory tract infections, Eczematoid der... OMIM:147060
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Pulmonar... ORPHA:449280
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Neutrophilic infiltration of the skin, Skin rash, Increased circu... OMIM:618048
Common Variable Immunodeficiency
Pneumonia, Recurrent respiratory infections, Emphysema, Otitis media, Recurrent bronchitis, Chron... ORPHA:1572
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... OMIM:615482
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... OMIM:601859
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Recurrent bronchiolitis, Bronchiectasis, Chronic bronchitis OMIM:613021
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Increased circulating IgA leve... ORPHA:555905
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin... ORPHA:420741
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615500
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Increased circulating antibody level... ORPHA:2137
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Pyoderma, Reduced delayed hypersensitivity, Emphysema... OMIM:242700
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic bronc... OMIM:608647
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurr... OMIM:615518
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Arthritis, Conjunctivitis, Maculopapular exanthema,... ORPHA:448237
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Prolidase Deficiency
Crusting erythematous dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Increased circulati... OMIM:170100
Boutonneuse Fever
Increased circulating IgG level, Maculopapular exanthema, Skin rash, Increased circulating IgM level ORPHA:83313
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased circulating IgG level, Transudative pleural e... ORPHA:284227
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Malar rash, Skin rash, Pustule, Myositis, Increased circulating IgA level, Increas... OMIM:615934
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Reduced delayed hypersensitivity, Malar rash, Increased circulating IgA level, Increas... OMIM:603909
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis OMIM:613193
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circul... OMIM:617388
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Recurrent resp... ORPHA:79124
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:613808
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Respiratory tract infecti... ORPHA:31202
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:614935
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased lymphocyte proliferation in re... OMIM:613179
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Increased circulating antib... ORPHA:781
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusitis, Conjunctivitis, ... OMIM:617591
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Good Syndrome
Recurrent skin infections, Sinusitis, Recurrent respiratory infections, Decreased circulating ant... ORPHA:169105
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chronic otitis... OMIM:244400
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... ORPHA:91139
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Atyp... ORPHA:83471
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgA level, Panniculitis, Increased circulating IgM level OMIM:617099
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Aspiration ORPHA:2004
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Recurrent sinopulmonary infections, Rhin... ORPHA:486
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmonary pneumatocele, Pl... ORPHA:36238
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Endocarditis, Epididymi... ORPHA:1304
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory infections, ... OMIM:616037
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Bronchitis, Decreased circulating IgA level, Decrease... ORPHA:125
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Arthritis ORPHA:343
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total... OMIM:619381
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Respiratory tract infection, Infectiou... ORPHA:36234
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Ebola Hemorrhagic Fever
Maculopapular exanthema, Acute pancreatitis, Hepatitis, Increased circulating antibody level ORPHA:319218
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M... ORPHA:39812
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Primary Sjögren Syndrome
Arteritis, Chronic hepatitis, Increased circulating antibody level, Lymphocytic interstitial pneu... ORPHA:289390
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... ORPHA:221139
Encephalitis Lethargica
Hyperventilation, Increased circulating antibody level ORPHA:83600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Psoria... ORPHA:293978
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Panniculit... ORPHA:228123
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Hepatitis, Keratitis, Bronchitis, Osteomyelit... ORPHA:2552
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abnormal circulating chemokine concentration, Increased circulating interleukin 6 conc... ORPHA:544482
Cleft Larynx, Posterior
Aspiration OMIM:215800
Hyper-Igd Syndrome
Lymphadenitis, Skin rash, Increased circulating IgA level, Arthritis, Chronic oral candidiasis, I... OMIM:260920
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, Conjunct... ORPHA:454836
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Abnormality of T cell physiology, Pleural effusio... OMIM:181000
Cystic Echinococcosis
Pulmonary cyst, Increased circulating antibody level, Abnormal subpleural morphology, Multiple pu... ORPHA:400
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, Recurrent bronchopulmonary infection... OMIM:617303
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Scleromyxedema
Paraproteinemia, Abnormal pulmonary artery morphology, Abnormal lung morphology ORPHA:167635
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Lassa Fever
Conjunctivitis, Increased circulating IgM level ORPHA:99824
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Viss Syndrome
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le... OMIM:619472
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Hypoventilation, Aspiration pneumonia ORPHA:314655
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration, Cholecystitis ORPHA:69665
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent upper respiratory tract infections, Increased circulating interleukin 8 concentration, ... OMIM:256040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Decreased circulating complement factor B concentration, Skin rash, Increas... ORPHA:2298
Omenn Syndrome
Pneumonia, Erythroderma, Thyroiditis ORPHA:39041
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Increased cir... OMIM:615846
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio... ORPHA:31204
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Aapoaiv Amyloidosis
Paraproteinemia, Abnormal lung morphology ORPHA:439232
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Aspiration OMIM:610768
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Pleural effusion, Decreased cir... ORPHA:29073
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgi... ORPHA:829
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Hypoventilation, Myositis, Recurrent lower respiratory tract infections, Aspiration ORPHA:258
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Abnormal pulmonary interstitial morphology, Interstitial pneumonitis, Spontaneous neonatal pneumo... ORPHA:217563
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Increased circulating IgG level, Increased circula... ORPHA:319251
Leukocyte Adhesion Deficiency
Pneumonia, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Vaginitis, Osteomye... ORPHA:2968
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular exanthema, Uv... ORPHA:499009
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Pulmonary interstitial high-resolution computed tomog... ORPHA:85443
Zygomycosis
Nephritis, Hepatitis, Atelectasis, Fasciitis, Pleural effusion, Infectious encephalitis, Pustule,... ORPHA:73263
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Chronic otitis media ORPHA:169090
Tay-Sachs Disease
Aspiration OMIM:272800
Hyperekplexia 1
Aspiration OMIM:149400
Mevalonic Aciduria
Morbilliform rash, Increased circulating IgD level, Skin rash OMIM:610377
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Osteoarthritis, Increased circulating antibody level ORPHA:77259
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Shigellosis
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Alveolar Echinococcosis
Cholangitis, Pulmonary cyst, Cutaneous abscess, Increased circulating antibody level ORPHA:284
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Japanese Encephalitis
Pulmonary edema, Increased circulating IgM level, Infectious encephalitis, Increased circulating ... ORPHA:79139
Listeriosis
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust... ORPHA:533
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Increased circulating interleukin 6 concentration, Pleural effusion, Pulmonary edema, ... ORPHA:340
Poems Syndrome
Pleural effusion, Increased circulating antibody level ORPHA:2905
Tick-Borne Encephalitis
Increased circulating IgG level, Myelitis, Increased circulating IgM level, Abnormal circulating ... ORPHA:297
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis, Thyroiditis ORPHA:64744
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Increased circulati... ORPHA:77261
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Hypoventilation ORPHA:70
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Amyotrophic Lateral Sclerosis 21
Aspiration OMIM:606070
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Skin rash ORPHA:247691
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration ORPHA:600
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Myositis, Increased circulating IgA level, Keratoconjunctivitis... ORPHA:79078
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Conjunctivitis, Recurrent respirato... ORPHA:505248
Esophageal Atresia
Bronchitis, Esophagitis, Recurrent respiratory infections, Aspiration, Pulmonary hypoplasia ORPHA:1199
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Cholera
Hyperventilation, Aspiration pneumonia ORPHA:173
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Prost... ORPHA:1546
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Shwachman-Diamond Syndrome
Pneumonia, Bone marrow hypocellularity, Eczematoid dermatitis, Osteomyelitis, Skin rash, Impaired... ORPHA:811
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Primary Biliary Cholangitis
Increased circulating IgA level, Hepatitis, Gastrointestinal inflammation, Increased circulating ... ORPHA:186
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Aspiration ORPHA:96182
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration OMIM:618922
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Aspiration OMIM:619777
Neuromuscular Oculoauditory Syndrome
Aspiration OMIM:618733
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Intraalveolar phospholipid accumulation, Reduced circulating com... ORPHA:470
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Halperin-Birk Syndrome
Aspiration OMIM:618651
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Respiratory tract infection, Infectious encephalitis, Pustule, Sinusitis ORPHA:68
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Skin rash, Increased circulating antibod... ORPHA:91500
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Ogden Syndrome
Peripheral pulmonary artery stenosis, Eczematoid dermatitis, Recurrent otitis media, Pulmonary ed... OMIM:300855
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Adnp Syndrome
Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Crimean-Congo Hemorrhagic Fever
Diffuse alveolar hemorrhage, Parotitis, Morbilliform rash, Hemothorax, Cholecystitis, Orchitis, E... ORPHA:99827
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Primary Sclerosing Cholangitis
Hepatitis, Pleural effusion, Pancreatitis, Polyclonal elevation of IgM, Ulcerative colitis, Thyro... ORPHA:171
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration OMIM:614653
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Respiratory tract infection, Otitis media, Recurrent sinopulmonary infectio... ORPHA:581
Gaucher Disease
Hepatitis, Osteomyelitis, Increased circulating antibody level, Polyclonal elevation of IgM, Oste... ORPHA:355
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia OMIM:619482
Yellow Fever
Increased circulating interleukin 6 concentration, Increased circulating IgM level, Acute pancrea... ORPHA:99829
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Alternating Hemiplegia Of Childhood
Aspiration ORPHA:2131
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Increased circulating antibody level, Orchitis, Pancreatitis, Arthritis, Macu... ORPHA:99826
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections ORPHA:397715
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Recurrent skin infections ORPHA:79404
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Oculopharyngodistal Myopathy 1
Aspiration OMIM:164310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... ORPHA:95455
Neuroleptic Malignant Syndrome
Aspiration pneumonia ORPHA:94093
Bilateral Perisylvian Polymicrogyria
Aspiration ORPHA:98889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Aspiration, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Aspiration, Otitis media ORPHA:353277
Degcags Syndrome
Pneumonia, Rhinitis OMIM:619488
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia, Blepharitis ORPHA:280633
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Atopic dermatitis, Aspiration, Chronic otitis media OMIM:619503
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn... OMIM:616268
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353281
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Pulmonary edema, Per... OMIM:619991
Acrofacial Dysostosis, Cincinnati Type
Recurrent otitis media, Pulmonary artery stenosis, Pulmonary artery aneurysm, Aspiration OMIM:616462
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Aspiration pneumonia ORPHA:438213
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, 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
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of humoral immunity, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent aspiration... ORPHA:642
Doors Syndrome
Aspiration pneumonia ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Interstitial pneumonitis ORPHA:77293
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Impaired neutrophil chemotaxis, Pericarditis ORPHA:79318

Histopathology

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

There is no histopathology data for Lpar2

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 Lpar2.

No publications found that use IMPC mice or data for Lpar2.

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
Lpar2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lpar2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lpar2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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