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

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 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
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas... OMIM:617638
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Increased circulating IgE level, Lack of T cell function, Sinusitis, Recu... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... 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
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutan... OMIM:619752
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi... ORPHA:217390
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel... OMIM:617241
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Increased circulating IgE level, Chronic mucocu... OMIM:618282
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Increased... ORPHA:98813
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Increased circulating IgG... OMIM:243700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Recurrent sinopu... OMIM:615513
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Recurrent sinopulmon... OMIM:618394
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Increased circulating IgE level OMIM:212050
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Bronchiectasis, Decreased... OMIM:607594
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Recurrent lower respiratory tra... OMIM:620603
Netherton Syndrome
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... 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 IgE, Partial absence of specific antibody response to tetanus vaccine, Decr... OMIM:619824
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent lower respiratory tract infections, Increased circulating antibody level, Increased cir... ORPHA:169154
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:620282
Acute Lung Injury
Abnormal circulating cytokine concentration, Abnormal pulmonary interstitial morphology, Increase... ORPHA:178320
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level OMIM:270300
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia OMIM:601457
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circul... ORPHA:70578
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Eczematoid dermatitis OMIM:269840
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Eczematoid dermatitis, Decreased circulating IgG level, Pulmonary fibr... OMIM:619510
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Netherton Syndrome
Emphysema, Increased circulating IgE level, Decreased circulating antibody level, Skin rash, Ecze... ORPHA:634
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... OMIM:308230
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Interstitial Lung Disease 2
Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion... OMIM:178500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Arthritis, Decreased circulating antibody level, Bronchiectasis, Increase... ORPHA:397596
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Ato... ORPHA:2902
Whim Syndrome 1
Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent ... OMIM:193670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:614069
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Recurrent respir... OMIM:606367
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopul... OMIM:616576
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent lower respiratory tract infections, ... OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Erythroderma, Decreased circulati... ORPHA:169160
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Decreased... OMIM:619707
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Chronic mucocutaneous candidias... OMIM:615816
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Recurrent respiratory infections, Reduc... OMIM:615206
Pgm3-Cdg
Chronic otitis media, Increased circulating IgG level, Increased circulating IgE level, Increased... ORPHA:443811
Immunodeficiency 67
Septic arthritis, Increased circulating IgE level, Complete or near-complete absence of specific ... OMIM:607676
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... OMIM:608971
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurre... OMIM:102700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Decreased circulat... 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
Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ... OMIM:618108
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Increased circulating IgE level, Otitis media, Recurrent upper respirat... OMIM:602450
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Decreased circulating IgE, Prostatitis, Recurrent lower respira... OMIM:300755
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Increased circulating IgE level, Skin rash, Eczematoid dermati... ORPHA:2314
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Recurrent lower respiratory tr... OMIM:615758
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... 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
Defective T cell proliferation, Recurrent lower respiratory tract infections, Increased circulati... OMIM:618534
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Increased circulating IgE level, Eczematoid dermatitis, Erythroderma, Hepatitis, Glome... OMIM:304790
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,... ORPHA:3261
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Recurrent otitis media, Increased circulating interleukin 6 concentration, Recurrent lower respir... OMIM:620430
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilic infiltration of t... OMIM:615508
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... ORPHA:540
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s... OMIM:617765
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Pulmonary pneumatocele, Minimal change glomerulonephritis, Myositis, Increased circulating IgE le... OMIM:620565
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa... ORPHA:69126
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
Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Decreased circulating a... OMIM:616100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Recurrent respiratory infections, Myositis, Thyroiditis, Increased circulating IgE lev... ORPHA:37042
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 27A
Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Pneum... OMIM:209950
Immunodeficiency 32B
Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Recurrent respiratory infec... OMIM:226990
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Immunodeficiency 43
Lung abscess, Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA level, Ab... OMIM:241600
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch... ORPHA:183675
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis OMIM:313900
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusiti... OMIM:615207
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Partial absence of specific a... OMIM:619652
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 52
Defective T cell proliferation, Decreased circulating antibody level, Recurrent pneumonia, Bronch... OMIM:617514
Tularemia
Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:3392
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:158061
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Pneumonia OMIM:266265
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Decreased specific antibody r... OMIM:614700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Abnormal delayed h... OMIM:301000
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level, Lymphocytic interstitial pneumonia, Recurrent respiratory infect... OMIM:618495
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Impaired Ig class switch recombination, Osteomyelitis, Recurrent upper respirator... OMIM:608184
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Recurrent otitis media, Absent isohemagglutini... OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, C... OMIM:600802
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of specific... OMIM:618986
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Abnormal immunoglobulin level, Increased circulating IgG level, Skin ra... ORPHA:276
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Arthritis, Skin rash, Sinusitis, Conjunct... ORPHA:33110
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Recurrent pharyngitis, Fulminant hepatitis, Decreased circulating antibody ... OMIM:308240
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Increased circulating antibody level, Decreased lymphocyte apop... OMIM:614470
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Acute infectious pneumonia, Pleur... ORPHA:723
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased cir... OMIM:601495
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Igg4-Related Submandibular Gland Disease
Prostatitis, Cholangitis, Increased circulating antibody level, Increased circulating IgG level, ... ORPHA:449432
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Myositis, Predominantly dermal n... ORPHA:3243
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity, Tubulointerstitial nephritis, S... ORPHA:330015
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... OMIM:620321
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM... OMIM:619705
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... ORPHA:229717
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis 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
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:508533
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Decreased circulating IgG level, Increased circulat... OMIM:616005
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Enteroviral h... OMIM:307200
Immunodeficiency 10
Increased circulating IgG3 level, Recurrent otitis media, Increased circulating IgA level, Decrea... OMIM:612783
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Abnormal circulating interleukin concentration, Arthritis, Synovitis ORPHA:85435
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc... ORPHA:331235
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Neoplasm of... ORPHA:449563
Schnitzler Syndrome
Arthritis, Increased circulating IgM level, Skin rash ORPHA:37748
Caffey Disease
Increased circulating antibody level ORPHA:1310
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Increased circulating antibody level ORPHA:48377
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Increased circulating IgE level, Skin rash, Pleural empyema, Chronic mu... OMIM:147060
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Increased circulating IgA level, Skin rash, Abnormal circulating... OMIM:618048
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bron... ORPHA:1572
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Rh... ORPHA:85410
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ... OMIM:615952
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Neutrophilic i... ORPHA:555905
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve... ORPHA:420741
Trichinellosis
Conjunctivitis, Increased circulating IgE level, Skin rash ORPHA:863
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Decreased circulating complement C3 concentration, Decr... ORPHA:329918
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615500
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Autoimmune Hepatitis
Increased circulating antibody level, Sclerosing cholangitis, Increased circulating IgG level, Th... ORPHA:2137
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Emphysema, Pyoderma, Recurrent bronchopulmonary infections, Ecz... OMIM:242700
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Immunodeficiency 13
Recurrent otitis media, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Recurrent upper... OMIM:615518
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Infectious encephalitis, Conjunc... ORPHA:448237
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Prolidase Deficiency
Eczematoid dermatitis, Recurrent pneumonia, Increased circulating antibody level, Crusting erythe... OMIM:170100
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema, Skin rash ORPHA:83313
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Tempi Syndrome
Increased circulating IgG level, Abnormality of the pulmonary vasculature, Transudative pleural e... ORPHA:284227
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... OMIM:612650
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Malar rash, Increased circulating IgA level, Skin rash, Myositis... OMIM:615934
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
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgG level, Malar rash, Increased circulat... OMIM:603909
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Thyroiditis, Increased circulating IgA level, Punctate keratitis... OMIM:617388
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Panhypogammaglobulinemia, Chronic mucocutane... ORPHA:79124
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Melioidosis
Lung abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Respiratory... ORPHA:31202
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Impaired T cell function, Sinusitis, Otitis media, ... OMIM:613179
Interstitial Cystitis
Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation ORPHA:37202
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pl... ORPHA:781
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinu... OMIM:613807
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Increased circulating antibody level, Myositis, Arthritis, Skin rash, Sinusitis, Co... OMIM:617591
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Good Syndrome
Decreased circulating antibody level, Sinusitis, Bronchiectasis, Recurrent skin infections, Recur... ORPHA:169105
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Pneumo... OMIM:244400
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Arthritis, Monoclonal elevation of circulating IgA, Viral hepatitis,... ORPHA:91139
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bac... ORPHA:911
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Re... ORPHA:83471
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia OMIM:610910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level, Panniculitis, Skin rash OMIM:617099
Laryngotracheoesophageal Cleft
Aspiration, Recurrent respiratory infections ORPHA:2004
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Pneum... ORPHA:486
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615444
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Brucellosis
Bronchitis, Pericarditis, Anterior uveitis, Myocarditis, Increased circulating IgG level, Septic ... ORPHA:1304
Postinfectious Vasculitis
Gastrointestinal inflammation, Increased circulating antibody level, Bacterial endocarditis, Incr... ORPHA:48435
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... OMIM:616037
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Decreased circulating antibody level, Decreased circulating IgG... ORPHA:125
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Increased circulating IgA level, Recurrent aphthous stomatitis, Peritonitis ORPHA:343
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Recurrent otitis media, Gastritis, Decreased lymphocyte prolifer... OMIM:619381
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Respiratory tract infection, S... ORPHA:36234
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Increased circulating antibody level, Maculopapular exanthema ORPHA:319218
Graft Versus Host Disease
Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acute hepatitis, ... ORPHA:39812
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Primary Sjögren Syndrome
Increased circulating antibody level, Bronchitis, Optic neuritis, Erythema nodosum, Glomeruloneph... ORPHA:289390
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Decreased lymphocyte proliferation in ... ORPHA:221139
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation ORPHA:83600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulating antibo... ORPHA:293978
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Microsporidiosis
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Bronchitis, Thyroiditis, Keratocon... ORPHA:2552
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Pleuritis, Acute co... ORPHA:544482
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Cleft Larynx, Posterior
Aspiration OMIM:215800
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Increased circulating IgA level, Skin rash, Lymphadenitis, I... OMIM:260920
Avian Influenza
Pneumothorax, Myelitis, Pleural effusion, Conjunctivitis, Pneumonia, Hepatitis, Infectious enceph... ORPHA:454836
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Arth... OMIM:181000
Cystic Echinococcosis
Increased circulating antibody level, Abnormal subpleural morphology, Multiple pulmonary cysts, M... 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
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Neoplasm of the lung ORPHA:158057
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased circulating IgM lev... OMIM:617303
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Scleromyxedema
Abnormal lung morphology, Abnormal pulmonary artery morphology, Paraproteinemia ORPHA:167635
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... ORPHA:139402
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Chronic gast... OMIM:619472
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 otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:256040
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Skin rash, Decreased circulatin... ORPHA:2298
Omenn Syndrome
Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Recurrent lower respiratory tract infections, Arthritis, Sk... OMIM:615846
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Reduced circulating complement concentration, Sinusitis, ... ORPHA:449427
Nocardiosis
Pneumothorax, Scleritis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenitis, Peri... ORPHA:31204
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Aapoaiv Amyloidosis
Abnormal lung morphology, Paraproteinemia ORPHA:439232
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin OMIM:610768
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, Decreased circulating antibody ... ORPHA:29073
Adult-Onset Still Disease
Myocarditis, Pleuritis, Arthritis, Skin rash, Pericarditis, Arthralgia/arthritis, Bone marrow hyp... ORPHA:829
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections, Myositis, Aspiration ORPHA:258
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Rift Valley Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Hepatitis, Infectiou... ORPHA:319251
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s... ORPHA:2968
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys... OMIM:158310
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Syphilis
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, 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
Myocarditis, Pneumothorax, Fasciitis, Pancreatitis, Gastritis, Atelectasis, Acute infectious pneu... ORPHA:73263
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Tay-Sachs Disease
Aspiration OMIM:272800
Hyperekplexia 1
Aspiration OMIM:149400
Mevalonic Aciduria
Morbilliform rash, Skin rash, Increased circulating IgD level 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
Shigellosis
Myocarditis, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia, Ulcerative colitis... ORPHA:810
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Alveolar Echinococcosis
Cholangitis, Increased circulating antibody level, Cutaneous abscess, Pulmonary cyst ORPHA:284
Spondyloenchondrodysplasia
Arthritis, Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis ORPHA:1855
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Japanese Encephalitis
Pulmonary edema, Increased circulating IgM level, Increased circulating antibody level, Infectiou... ORPHA:79139
Listeriosis
Myocarditis, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthritis, Conjunctivitis, ... ORPHA:533
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Acute tubulointerstitial neph... ORPHA:340
Poems Syndrome
Pleural effusion, Increased circulating antibody level ORPHA:2905
Tick-Borne Encephalitis
Increased circulating IgG level, Increased circulating IgM level, Myelitis, Abnormal circulating ... ORPHA:297
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Igg4-Related Thyroid Disease
Thyroiditis, Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis ORPHA:64744
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration ORPHA:101096
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Recurrent respi... ORPHA:77261
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Proximal Spinal Muscular Atrophy
Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to aspiration 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
Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... ORPHA:79078
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity, Co... ORPHA:505248
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Esophageal Atresia
Bronchitis, Aspiration, Esophagitis, Pulmonary hypoplasia, Recurrent respiratory infections ORPHA:1199
Cholera
Aspiration pneumonia, Hyperventilation ORPHA:173
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Cryptococcosis
Pneumonia, Prostatitis, Pleural effusion, Peritonitis, Nodular pattern on pulmonary HRCT, Osteomy... ORPHA:1546
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Shwachman-Diamond Syndrome
Skin rash, Eczematoid dermatitis, Sinusitis, Bone marrow hypocellularity, Pneumonia, Impaired neu... ORPHA:811
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
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
Gastrointestinal inflammation, Increased circulating IgA level, Increased circulating IgM level, ... ORPHA:186
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Esophagitis 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 pneumonia, Recurrent aspiration pneumonia OMIM:300472
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Developmental And Epileptic Encephalopathy 100
Aspiration, Recurrent respiratory infections OMIM:619777
Neuromuscular Oculoauditory Syndrome
Aspiration OMIM:618733
Lysinuric Protein Intolerance
Pancreatitis, Increased circulating antibody level, Intraalveolar phospholipid accumulation, Decr... ORPHA:470
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis ORPHA:1018
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Halperin-Birk Syndrome
Aspiration OMIM:618651
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis ORPHA:68
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si... OMIM:615067
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level, Skin rash, Posterior uveit... ORPHA:91500
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Ogden Syndrome
Pulmonary edema, Recurrent otitis media, Aspiration, Eczematoid dermatitis, Pulmonary artery sten... OMIM:300855
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Adnp Syndrome
Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Increased circulating IgG level, Parotitis, Acute pancreatitis, I... ORPHA:99827
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Primary Sclerosing Cholangitis
Pancreatitis, Thyroiditis, Pleural effusion, Ulcerative colitis, Polyclonal elevation of IgM, Hep... ORPHA:171
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Aspiration OMIM:614653
Mucopolysaccharidosis Type 3
Chronic otitis media, Aspiration pneumonia, Respiratory tract infection, Recurrent sinopulmonary ... ORPHA:581
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Gaucher Disease
Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Osteoarthritis,... ORPHA:355
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
Acute pancreatitis, Increased circulating IgM level, Increased circulating interleukin 6 concentr... ORPHA:99829
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Alternating Hemiplegia Of Childhood
Aspiration ORPHA:2131
Marburg Hemorrhagic Fever
Pancreatitis, Increased circulating antibody level, Arthritis, Skin rash, Pericarditis, Orchitis,... 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
Interstitial pneumonitis, Bone marrow hypocellularity, Pulmonary fibrosis OMIM:127550
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections OMIM:602535
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia 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
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Pyoderma, Pneumonia, Recurrent skin infections ORPHA:79404
Plague
Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Skin rash,... ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Oculopharyngodistal Myopathy 1
Aspiration OMIM:164310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnormality of... ORPHA:95455
Neuroleptic Malignant Syndrome
Aspiration pneumonia ORPHA:94093
Bilateral Perisylvian Polymicrogyria
Aspiration ORPHA:98889
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Recurrent respiratory infections, Otitis media ORPHA:353277
Degcags Syndrome
Pneumonia, Rhinitis OMIM:619488
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Chronic otitis media, Aspiration, Recurrent otitis media, Atopic dermatitis OMIM:619503
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia ORPHA:280633
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Recurrent aspiration pneumonia, Conjunctivitis, Rec... 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
Pulmonary edema, Recurrent otitis media, Chronic gastritis, Eczematoid dermatitis, Peritonitis, P... OMIM:619991
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery stenosis, Aspiration, Pulmonary artery aneurysm, Recurrent otitis media 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
Pneumothorax, Recurrent aspiration pneumonia, 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
Recurrent aspiration pneumonia, Osteomyelitis, Septic arthritis, Fasciitis, Abnormality of humora... 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
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology ORPHA:77293
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Pericarditis, Impaired neutrophil chemotaxis, Aspiration pneumonia 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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