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Gene: Ptgdr2 MGI:1330275

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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:
prostaglandin D2 receptor 2
Synonyms:
PGD2 receptor,  Gpr44,  Crth2

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 Ptgdr2 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 Ptgdr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Lipedema
Edema OMIM:614103
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Dissecting Cellulitis Of The Scalp
Recurrent skin infections, Edema ORPHA:345
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... OMIM:300310
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can... ORPHA:98813
Lymphatic Malformation 2
Lymphedema OMIM:611944
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... ORPHA:277
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 62
Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul... OMIM:618459
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Wells Syndrome
Eosinophilia ORPHA:901
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media OMIM:312863
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Increased circulating IgE ... OMIM:618282
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti... OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased pr... ORPHA:169160
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... OMIM:240500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig... OMIM:243700
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased circulating fe... OMIM:300635
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis OMIM:615139
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:619924
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema OMIM:154800
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Roifman Syndrome
Decreased circulating antibody level, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphocyte proliferation in r... OMIM:615592
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... OMIM:618394
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... OMIM:619824
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... OMIM:616100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
White Sponge Nevus 2
Edema OMIM:615785
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... OMIM:308230
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu... OMIM:614069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... ORPHA:436159
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu... ORPHA:275
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... OMIM:241600
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... OMIM:618108
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... OMIM:619652
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti... OMIM:615577
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:611926
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Incr... OMIM:606367
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level ORPHA:90368
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent skin infections OMIM:620210
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... ORPHA:276
Lymphatic Malformation 10
Lymphedema OMIM:619369
Immunodeficiency 22
Pericarditis, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Chronic o... OMIM:615758
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronchiectasis, Uveitis, Th... OMIM:614700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, D... ORPHA:331235
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce... ORPHA:35078
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... OMIM:242860
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... OMIM:616005
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co... OMIM:601495
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:540
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... ORPHA:90363
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating total IgM, Hypoalbuminemia, Decreased... ORPHA:90362
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Decreased ci... ORPHA:221139
Riddle Syndrome
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Recurrent pneumonia, Arthritis, ... ORPHA:420741
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Increased circulat... ORPHA:449563
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level OMIM:215250
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Elevated circulating C... OMIM:619381
Celiac Disease, Susceptibility To, 1
Eczema, Thyroiditis, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, Decreased circulatin... OMIM:212750
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:607143
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... ORPHA:3243
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... OMIM:602668
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:612301
Bloom Syndrome
Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulating antibody level, Decreased circula... ORPHA:125
Bloom Syndrome
Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Decreased c... OMIM:210900
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Hypoalbuminemia, Steatorrhea, Decreased circulating IgG level, Hypocholesterolemia,... OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating creatine kinase concentration, Decreased circulating Ig... OMIM:613327
Ataxia-Telangiectasia
Sinusitis, Elevated circulating alpha-fetoprotein concentration, Decreased circulating IgG2 level... OMIM:208900
Immunodeficiency 47
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:300972
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Smith-Kingsmore Syndrome
Decreased circulating IgA level OMIM:616638
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620040
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hashimoto thyroiditis, Decreased circulating IgA level OMIM:613385
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Tropical Endomyocardial Fibrosis
Splenomegaly, Increased circulating interleukin 6 concentration, Eosinophilia ORPHA:75565
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:79330
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Decreased circulating total IgM, Eczema OMIM:618162
Dubowitz Syndrome
Eczema, Otitis media, Hypocholesterolemia, Decreased circulating IgG level, Decreased circulating... OMIM:223370
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Polyclonal elevation of IgM, Hepatosplenomegaly, Hi... ORPHA:171
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia ORPHA:96253
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Hypertriglyceridemia, Decreased circulating IgA level ORPHA:369837
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:620005
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Superficial dermal perivascular inflammatory infiltrate, Eczema,... ORPHA:83617
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia ORPHA:99889

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 Ptgdr2

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 Ptgdr2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Activation of GPR44 decreases severity of myeloid leukemia via specific targeting of leukemia initiating stem cells. Cell reports (July 2023) Ptgdr2tm1(KOMP)Vlcg 37459233

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MGI Allele Allele Type Produced
Ptgdr2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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