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Gene: Il1rl1 MGI:98427

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Gene Summary

Name:
interleukin 1 receptor-like 1
Synonyms:
St2,  T1/ST2,  Fit-1,  T1 gene,  Ly84,  DER4,  ST2,  ST2L,  St2-rs1,  T1

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IMPC Data Collections

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.

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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.

Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left fundus

15 Images

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Human diseases caused by Il1rl1 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 Il1rl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 88
Eosinophilia OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decr... ORPHA:169154
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Hepatosplenomegaly,... ORPHA:169160
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Rec... OMIM:226990
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia OMIM:619290
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino... OMIM:618523
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... OMIM:618282
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Chylous Ascites
Pancreatitis ORPHA:1160
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:79084
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Recurrent upp... OMIM:602450
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
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
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Autoinflammation, Immune Dysregulation, And Eosinophilia
Recurrent viral infections, Eosinophilia, Hepatosplenomegaly OMIM:618999
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... OMIM:256500
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level, Recu... ORPHA:353298
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Wells Syndrome
Eosinophilia ORPHA:901
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti... OMIM:240500
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc... OMIM:615816
Roifman Syndrome
Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Eosinophilia OMIM:616651
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
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 OMIM:253600
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neoplasm of the liver, S... ORPHA:69663
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis OMIM:620137
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis OMIM:618805
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Bronchiectasis, Recurrent sinusitis, Recur... OMIM:300853
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect... ORPHA:2314
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgE level, Increased circulating antibody level, Increas... ORPHA:449400
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:79312
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Recurrent infections, Eosinophilia, Decreased circulating antibody level OMIM:617425
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Recurrent tonsillitis, Sepsis, Decreased eosinophil count, ... ORPHA:2686
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis ORPHA:27
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... OMIM:618935
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... ORPHA:727
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:435651
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Pneumonia ORPHA:70578
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... ORPHA:549
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Propionic Acidemia
Hepatomegaly, Eczema, Pancreatitis OMIM:606054
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Maple Syrup Urine Disease
Pancreatitis OMIM:248600
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... ORPHA:2552
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Pancreatitis ORPHA:412057
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly OMIM:251000
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Sepsis, Eosinophilia ORPHA:199299
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Eosinophilia, Chronic mucocutaneous candidiasis OMIM:158310
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Colitis, Cut... OMIM:209920
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Acute Lung Injury
Acute pancreatitis, Pneumonia ORPHA:178320
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Skin rash, Acute otitis media, Lack of T cell function, Decreased circulating antibody... ORPHA:572
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Cu... OMIM:600802
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Hepat... OMIM:232220
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis ORPHA:247585
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... ORPHA:171
Aregenerative Anemia
Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Aicardi-Goutieres Syndrome 9
Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio... OMIM:619487
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Abnormality of thyroid physiology, Minimal change glomerulonephritis ORPHA:1830
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Familial Chylomicronemia Syndrome
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat... ORPHA:444490
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... ORPHA:562
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Gout, Hypothyroidism ORPHA:412
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Zygomycosis
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... ORPHA:73263
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... ORPHA:228123
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis ORPHA:319218
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Acute pancreatitis ORPHA:26791
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis,... ORPHA:79259
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Glycogen Storage Disease Ia
Hepatomegaly, Pancreatitis, Gout, Hepatocellular carcinoma OMIM:232200
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis ORPHA:280365
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Lymphadenitis, Abno... ORPHA:449395
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... OMIM:618268
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... ORPHA:900
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... ORPHA:93126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced delayed hypersensitivity, Eczematoid derma... OMIM:242700
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir... OMIM:300972
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Lipid accumulation in hepatocytes, Jaundice ORPHA:20
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Keratitis, Retroperitoneal fibrosis, Orchitis, Thyroiditis, Prostatitis, ... ORPHA:449563
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Hepatomegaly, Inflammatory abnormality of the skin, Pancreatitis ORPHA:565612
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Pancreatitis, Acute colitis ORPHA:90038
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Wiskott-Aldrich Syndrome
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... ORPHA:906
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... OMIM:232240
Stevens-Johnson Syndrome
Conjunctivitis, Pancreatitis ORPHA:36426
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Toxic Epidermal Necrolysis
Conjunctivitis, Pancreatitis ORPHA:537
Visceral Myopathy 1
Pancreatitis OMIM:155310
Melas
Hypoparathyroidism, Hypothyroidism, Recurrent pancreatitis ORPHA:550
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pneumonia, Decreased lymphocyte proliferation in response to... OMIM:613179
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... ORPHA:470
Lysinuric Protein Intolerance
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:222700
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis ORPHA:544482
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... ORPHA:83471
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard... ORPHA:99827
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis OMIM:151660
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Arthritis, Pancrea... ORPHA:99826
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Tropical Endomyocardial Fibrosis
Splenomegaly, Increased circulating interleukin 6 concentration, Eosinophilia ORPHA:75565
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis OMIM:608594
Familial Hypocalciuric Hypercalcemia
Pancreatitis ORPHA:405
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level OMIM:613385
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis OMIM:269700
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Neutral Lipid Storage Myopathy
Hepatomegaly, Hepatic steatosis, Cholecystitis, Chronic pancreatitis ORPHA:98908
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Cushing Disease
Decreased eosinophil count, Leukocytosis, Lymphopenia, Recurrent cutaneous fungal infections ORPHA:96253
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ... OMIM:620005
Scorpion Envenomation
Myocarditis, Acute pancreatitis, Hyperhidrosis ORPHA:466677
Glycerol Kinase Deficiency
Adrenal insufficiency, Chronic pancreatitis OMIM:307030
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Trichinellosis
Increased circulating IgE level ORPHA:863
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation... OMIM:181000
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Splenomegaly, Decreased c... OMIM:619381
Yellow Fever
Acute pancreatitis, Pancreatic hyperplasia, Skin rash, Jaundice ORPHA:99829
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Decreased circulating IgA level OMIM:613327
Orotic Aciduria
Impaired T cell function OMIM:258900
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology ORPHA:221
Lipodystrophy, Familial Partial, Type 7
Recurrent pancreatitis OMIM:606721
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Recurrent cutaneous fungal infections ORPHA:99889
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Alström Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... ORPHA:64
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617

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 Il1rl1

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 Il1rl1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Interleukin-33 Promotes Serotonin Release from Enterochromaffin Cells for Intestinal Homeostasis. Immunity (November 2020) Il1rl1tm1c(KOMP)Wtsi 33220232
Astrocytes promote a protective immune response to brain Toxoplasma gondii infection via IL-33-ST2 signaling. PLoS pathogens (October 2020) Il1rl1tm1c(KOMP)Wtsi PMC7647122
The IL-33/ST2 pathway shapes the regulatory T cell phenotype to promote intestinal cancer. Mucosal immunology (June 2019) Il1rl1tm1c(KOMP)Wtsi 31165767

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
Il1rl1em4(IMPC)Bay Exon Deletion Mice
Il1rl1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il1rl1em3(IMPC)Bay Deletion Mice
Il1rl1em2(IMPC)Bay Exon Deletion Mice
Il1rl1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Il1rl1em1(IMPC)Bay Deletion Mice

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