Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transmembrane protein 219
Synonyms:
2900045G02Rik,  1110032O16Rik

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 Tmem219 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 Tmem219 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... OMIM:617638
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... OMIM:618982
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... OMIM:226990
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, S... ORPHA:217390
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi... ORPHA:2902
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Squam... OMIM:243700
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Increased circulating IgE level, Recurrent pneumonia, Lack of T cell function, Abnorma... ORPHA:277
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Reduced natural killer cel... OMIM:300400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat... ORPHA:169160
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Bronchiectasis, Eosinophilia OMIM:618523
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Asthma, ... ORPHA:449400
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia OMIM:270300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decrea... OMIM:619752
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Recurrent pneumonia, Cutaneous abscess OMIM:147060
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency 95
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... OMIM:619773
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Aspergillosis
Sinusitis, Eosinophilia, Pneumonia, Hematological neoplasm, Dyspnea, Asthma, Increased circulatin... ORPHA:1163
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:618282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Increased ci... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... ORPHA:3261
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia OMIM:616069
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased circulatin... OMIM:618394
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Decr... ORPHA:353298
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Allergic rhinitis, Asthma, Increased circulating IgE lev... OMIM:615816
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Myelodysplasia, Acute lymphobla... ORPHA:486
Netherton Syndrome
Allergic rhinitis, Asthma, Increased circulating IgE level, Hypereosinophilia, Chronic rhinitis, ... OMIM:256500
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, B ... OMIM:602450
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,... ORPHA:724
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto... ORPHA:2070
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Cough, Decreased DLCO, Pu... OMIM:178500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplasia, Hematologi... ORPHA:98849
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Pneumonia, Autoimmune th... ORPHA:911
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Asthma, Short Stature, And Elevated Iga
Asthma, Increased circulating IgA level OMIM:208600
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia, Lymphoma, Cough ORPHA:2314
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Abnormal lymphocyte morphology, An... ORPHA:39041
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increase... OMIM:209950
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Roifman Syndrome
Splenomegaly, Recurrent pneumonia, Eosinophilia OMIM:616651
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Netherton Syndrome
Asthma, Emphysema, Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Wells Syndrome
Eosinophilia ORPHA:901
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased... OMIM:616005
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Increase... ORPHA:397596
Cystic Echinococcosis
Eosinophilia, Abscess, Asthma, Increased circulating antibody level, Splenic cyst, Peritoneal abs... ORPHA:400
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Lead Poisoning
Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal respiratory sy... ORPHA:330015
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia ORPHA:100024
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Autoimmune hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Spleno... ORPHA:37042
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, Pneumonia, Abno... ORPHA:276
Loeffler Endocarditis
Dyspnea, Eosinophilia, Cough ORPHA:75566
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Abnormal circulat... OMIM:618048
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... ORPHA:507
Agammaglobulinemia, X-Linked
Wheezing, Recurrent pneumonia, Bronchiectasis, Agammaglobulinemia, Decreased circulating total Ig... OMIM:300755
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Chilblain Lupus
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Dyspnea, Abnormal spleen morphology, Increased circulating antibody ... ORPHA:284
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Lymphoma, Increased circulating IgM level, Anemia ORPHA:37748
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Dyspnea, Interstitial pneumonitis, Lymphocytosis, Cough ORPHA:139402
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia ORPHA:293173
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... ORPHA:171442
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449563
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449395
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Leukocytosis, Anemia, Increased circulating antib... ORPHA:3392
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Hypoalbuminemia OMIM:615508
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Cough ORPHA:183
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... ORPHA:284227
Coccidioidomycosis
Respiratory distress, Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Increased circ... ORPHA:228123
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Neutrophilia, Eosinophilia, Myelodysplasia, Pulmonary embolism, Thrombocyto... ORPHA:3260
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulat... OMIM:618495
Caffey Disease
Increased circulating antibody level, Respiratory insufficiency ORPHA:1310
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Eosinophilia, Rhinorrhea OMIM:158310
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth a... ORPHA:2686
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Facial capillary hemangioma, Leukocytosis, Patent ductus arteriosus, Hepatosplenome... OMIM:274000
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma ORPHA:199299
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617099
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... ORPHA:101096
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Selective Igm Deficiency
Paraproteinemia, Decreased proportion of transitional B cells, Thyroid carcinoma, Decreased propo... ORPHA:331235
Incontinentia Pigmenti
Verrucae, Pulmonary arterial hypertension, Eosinophilia ORPHA:464
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Boutonneuse Fever
Increased circulating IgG level, Respiratory failure, Increased circulating IgM level, Leukopenia... ORPHA:83313
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia ORPHA:48104
Lymphatic Filariasis
Circulating immune complexes, Wheezing, Hypereosinophilia, Restrictive ventilatory defect, Cough ORPHA:2035
Trichinellosis
Increased circulating IgE level ORPHA:863
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Simpson-Golabi-Behmel Syndrome
Nephroblastoma, Splenomegaly, Increased circulating IgE level, Neoplasm, Polysplenia, Hepatoblast... ORPHA:373
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Tachypnea... OMIM:615934
Prolidase Deficiency
Chronic lung disease, Splenomegaly, Asthma, Recurrent pneumonia, Anemia, Increased circulating an... OMIM:170100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Tachypnea, Increased circulating interferon-ga... ORPHA:542323
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Multiple myeloma ORPHA:48377
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Neoplasm of the skin, Increased circulating IgA level OMIM:616395
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Recurrent pneumon... OMIM:617303
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Epistaxis, Microcytic anemia, Thromb... ORPHA:906
Tropical Endomyocardial Fibrosis
Orthopnea, Increased circulating interleukin 6 concentration, Eosinophilia, Dyspnea, Splenomegaly... ORPHA:75565
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal immunoglobulin M proteinemia... ORPHA:91139
Ebola Hemorrhagic Fever
Dyspnea, Leukopenia, Increased circulating antibody level, Cough, Lymphopenia, Thrombocytopenia ORPHA:319218
Sarcoidosis
Hemolytic anemia, Eosinophilia, Dyspnea, Increased T cell count, Pneumothorax, Bronchiectasis, Up... ORPHA:797
Poems Syndrome
Lymphoproliferative disorder, Respiratory insufficiency due to muscle weakness, Restrictive venti... ORPHA:2905
Viss Syndrome
Exostosis of the external auditory canal, Dyspnea, Asthma, Pneumothorax, Increased circulating Ig... OMIM:619472
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Scleromyxedema
Paraproteinemia, Elevated circulating creatine kinase concentration, Multiple myeloma, Exertional... ORPHA:167635
Congenital Analbuminemia
Hypoproteinemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia ORPHA:86816
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration ORPHA:90003
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... ORPHA:77259
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Dyspnea,... ORPHA:85443
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Splenomegaly, Anemia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia OMIM:617591
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Hy... ORPHA:171
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Thrombocytopenia, Patent ductus arteriosus, Hepatosplenomegaly, Stridor, In... ORPHA:505248
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... OMIM:260920
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Increased circulating IgA lev... ORPHA:2298
Lassa Fever
Dyspnea, Increased circulating IgM level, Cough ORPHA:99824
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Q Fever
Respiratory distress, Pneumonia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Pleural effu... ORPHA:781
Japanese Encephalitis
Respiratory distress, Neutrophilia, Increased circulating IgM level, Respiratory paralysis, Incre... ORPHA:79139
Primary Sjögren Syndrome
Normocytic anemia, Lymphoproliferative disorder, Lymphocytic interstitial pneumonia, Nonproductiv... ORPHA:289390
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... ORPHA:297
Dermatomyositis
Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Respiratory insufficienc... ORPHA:221
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation ORPHA:83600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... ORPHA:99889
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Bronchiectasis, Hypoxemia,... OMIM:181000
Lysinuric Protein Intolerance
Thrombocytopenia, Increased circulating ferritin concentration, Intraalveolar phospholipid accumu... ORPHA:470
Postinfectious Vasculitis
Abnormal circulating protein concentration, Pneumonia, Elevated circulating C-reactive protein co... ORPHA:48435
Brucellosis
Liver abscess, Lung abscess, Pneumonia, Elevated circulating C-reactive protein concentration, Hy... ORPHA:1304
Aapoaiv Amyloidosis
Paraproteinemia, Chronic pulmonary obstruction ORPHA:439232
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Primary Biliary Cholangitis
Increased circulating IgM level, Hypoalbuminemia, Increased circulating IgA level ORPHA:186
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Pulmonary arterial hype... ORPHA:77261
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Pneumonia, Splenomegaly, Increased circulating ferritin concentra... OMIM:615846
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Pituitary corticotropic cell adenoma ORPHA:96253
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Gaucher Disease
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Respiratory in... ORPHA:355
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Epistaxis, Spleno... ORPHA:99827
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal tubular epithelia... ORPHA:91500
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Cysticercosis
Increased circulating antibody level ORPHA:1560

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 Tmem219

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 Tmem219.

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

Title Journal IMPC Allele PubMed ID
IL-13Rα2 uses TMEM219 in chitinase 3-like-1-induced signalling and effector responses. Nature communications (September 2016) Tmem219tm1(KOMP)Vlcg PMC5027616

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tmem219tm213259(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Tmem219tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tmem219tm433784(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Tmem219tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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