Gene Summary

Name:
G protein-coupled receptor 15
Synonyms:
4933439K08Rik

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Gpr15em1(IMPC)J HOM Early adult 5.06×10-05
decreased lean body mass Gpr15em1(IMPC)J HOM Early adult 2.69×10-07
decreased bone mineral content Gpr15em1(IMPC)J HOM Early adult 7.87×10-07
increased total body fat amount Gpr15em1(IMPC)J HOM Early adult 2.27×10-08
decreased mean corpuscular hemoglobin concentration Gpr15em1(IMPC)J HOM Early adult 1.18×10-05
impaired glucose tolerance Gpr15em1(IMPC)J HOM Early adult 1.01×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Gpr15 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 Gpr15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent respiratory infect... OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 37
Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level, Dec... OMIM:616098
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Colon cancer, Recurrent bacterial infections, Frequen... OMIM:300310
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, Fa... OMIM:615607
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Bronchiectasis, Recurrent respiratory... OMIM:608957
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Failure to thrive, Recurrent m... OMIM:614372
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Wiskott-Aldrich Syndrome 2
Recurrent infections, Reduced natural killer cell activity, Eczema, Defective T cell proliferatio... OMIM:614493
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Agammaglobulinemia, Protracted diarrhea, Cholang... OMIM:209920
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Immunodeficiency 19
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Lymphopenia, Diarrhea OMIM:615617
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... OMIM:233650
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopeni... OMIM:619164
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Protracted diarrhea, Autoimmune hemolytic anemia, Decreased proportion of CD4-posit... ORPHA:572
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, ... OMIM:601457
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Decreas... ORPHA:911
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, Impaired lympho... OMIM:617006
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Decreased circulating Ig... OMIM:300400
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Eczema, Otitis me... OMIM:608971
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent otitis medi... ORPHA:277
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased circulating total IgM, Incre... OMIM:243700
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... OMIM:300988
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Protracted diarrhe... ORPHA:331206
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:608184
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recurrent urinary t... ORPHA:83471
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Failure to thrive, Eczematoid dermatitis, Abs... OMIM:619693
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent viral infections, Onychomycosis, Recurrent respiratory in... ORPHA:217390
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumoni... OMIM:600802
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Colitis, Enterocolitis, Folliculitis, Perianal abscess, Pyoderma OMIM:613148
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy, A... OMIM:618987
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Chronic diarr... OMIM:616005
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Partial IgA deficiency, Absent natural killer cells, Failure to ... ORPHA:35078
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Failure to thrive in infancy, Autoimmune hemolytic anemia, Villous atrophy, Decreased specific an... OMIM:606367
Immunodeficiency 20
Recurrent oral herpes, Recurrent otitis media, BCGitis, Reduced natural killer cell activity, Rec... OMIM:615707
Immunodeficiency 21
Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... OMIM:614172
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Small for gestational age, Increased circulating I... OMIM:617241
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thyroiditis, Rheumatoid... ORPHA:331235
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Coombs-positive hemolytic anem... OMIM:617514
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Reduced natural killer cell activity, Splenomegaly... OMIM:616050
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Arthritis, Colitis, Inflammation of the la... OMIM:608809
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Decreased circulating IgG level, Decreased proportion of CD3-positiv... ORPHA:169160
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Omenn Syndrome
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... OMIM:603554
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Chronic diarrhea, Bron... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Diarrhea, Recurrent pneumonia, R... OMIM:102700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pne... OMIM:619652
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Agammaglobulinemia, Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Hypopla... OMIM:243150
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Enterocutaneous fistula, Enterocolitis, P... OMIM:612567
X-Linked Severe Congenital Neutropenia
Neutropenia, Recurrent bacterial infections, Monocytopenia ORPHA:86788
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Crohn's disease, Acute pancreatiti... OMIM:618935
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent viral infections, Recurrent ear infections, Recurr... ORPHA:486
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 58
Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous candidiasis, Recurre... OMIM:618131
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Inflammation of the large intestine, Failure to thrive, Lymphocytosis, Thro... OMIM:617718
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Hepatosplenomegaly, Increased circulating IgG level... OMIM:618982
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Severe infection, Peritonitis, ... ORPHA:2686
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Neutropenia, Anemia, Increased circulating antibo... OMIM:615285
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczem... OMIM:613960
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Acute lymphoblastic leukemia OMIM:610738
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent mycobact... ORPHA:319552
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Recurrent Staphylococcus aureus infections, High palate, Cutan... OMIM:147060
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Recurrent meningitis, Abnormal natur... OMIM:612260
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Bloody diarrhea, Leukocytosis, Increased circula... OMIM:618213
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233710
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections... OMIM:617475
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nep... ORPHA:37042
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:233690
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Recurrent respiratory infections, Failure to... OMIM:615758
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Cryptococcal meningitis, Persistent human papillomavirus infection OMIM:618309
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 23
Lymphopenia, Chronic mucocutaneous candidiasis, High palate, Molluscum contagiosum, Eczema, Esoph... OMIM:615816
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Periodontitis, Recurrent bacterial infections, Recurrent staphyloco... OMIM:116920
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Eosinophilic liver infiltration, Co... OMIM:618999
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... OMIM:612840
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Decreased circulating total IgG, Anemia, Hep... OMIM:619381
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent u... ORPHA:221139
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis media, Recurrent bronchitis OMIM:300455
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Immunodeficiency 27B
Osteomyelitis, Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurr... OMIM:615978
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, T lymphocytopenia, Decreased proportion of memory B ce... ORPHA:79124
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Constipation, Aganglionic megacolon, Abnormality of th... ORPHA:95427
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Immunodeficiency 66
Recurrent skin infections, Meningitis, Defective T cell proliferation, Sepsis, Pustule OMIM:618847
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Recurrent viral infections, Recurre... OMIM:242840
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Neutropenia, ... OMIM:612541
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Imp... OMIM:608233
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Osteoporosi... ORPHA:232
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Failure to thrive in infancy, Bloody mu... ORPHA:810
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Increased circulating IgM level, Decreased circulating I... OMIM:242860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Severe cytomegalovirus infection, Impaired lymphocyte tran... OMIM:619313
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Severe cytomegalovirus inf... OMIM:300291
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, R... OMIM:306400
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Infectious encephalitis, Maculopapular ex... ORPHA:540
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections OMIM:612783
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Gastrointestinal h... OMIM:603909
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the skin, Villous atrophy, Re... ORPHA:391487
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Increased circulating antibody level, Rheumatoid a... ORPHA:48104
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Esophagitis, Eosinophilic, 1
Eosinophilia, Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Leukocytosis, Weight loss, Lung abscess, Gastrointest... ORPHA:67
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Recurrent infections, Splenomegaly, Chronic diarrhea, Impaired T cell function, Inf... OMIM:614576
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Agammaglobulin... OMIM:619705
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Leukopenia, Achalasia, Gastroesophageal reflux, Recurr... OMIM:617053
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia, Reduced bone mine... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Sepsis In Premature Infants
Decreased body weight, Leukocytosis, Small for gestational age, Severe infection, Gastrointestina... ORPHA:90051
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diab... OMIM:606176
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Intestina... ORPHA:26790
Thymoma
Abnormal lymphocyte proliferation, Neoplasm of the gastrointestinal tract, Leukemia, Myositis, Ab... ORPHA:99867
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Severe cytomegalovirus infection, Autoimmune hemolytic anemia, Villous atrophy, ... OMIM:619573
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Enterocolitis
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA... ORPHA:555905
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Gastrointestinal hemorr... ORPHA:2137
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Recurrent infections, Chronic... OMIM:300972
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Nausea, Esophageal furrows, Dysphagia, Esophagitis, Esophageal stenosis, Abnormal peristalsis, Fe... ORPHA:411696
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Trichohepatoenteric Syndrome 2
Small for gestational age, Colitis, Failure to thrive, Hepatitis, Villous atrophy, Diarrhea OMIM:614602
Sweet Syndrome
Sterile abscess, Recurrent infections, Myositis, Leukocytosis, Acne inversa, Neutrophilia, Acute ... ORPHA:3243
Syndromic Diarrhea
Intractable diarrhea, Recurrent infections, Hepatoblastoma, Bloody diarrhea, Small for gestationa... ORPHA:84064
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Acne, Inflammation of the large intestine, Anemia, Osteomyelitis, Psoriasiform derma... ORPHA:324964
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Spl... OMIM:214500
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Anemia, Hematemesis, Otitis media, Abnormal platelet morphology, ... ORPHA:906
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Osteoporosis, Increased HbA2 hemoglob... ORPHA:231222
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Osteopenia, Hyperinsulinemia OMIM:615363
Zygomycosis
Nausea, Gastrointestinal hemorrhage, Invasive fungal infection, Hematemesis, Hepatitis, Pancreati... ORPHA:73263
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Obesity, Recurrent upper respiratory tract infections, Decreased pro... ORPHA:66628
Chédiak-Higashi Syndrome
Pancytopenia, Recurrent streptococcal infections, Abnormal leukocyte morphology, Anemia, Abnormal... ORPHA:167
Nijmegen Breakage Syndrome
Sinusitis, T lymphocytopenia, Recurrent pneumonia, Anal stenosis, Dysgammaglobulinemia, Autoimmun... OMIM:251260
Hypocomplementemic Urticarial Vasculitis
Uveitis, Arthritis, Inflammatory abnormality of the eye, Recurrent bacterial infections, Splenome... ORPHA:36412
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Bloody diarrhea, Leukocytosis, Colonic stenosis, Peritoni... ORPHA:90038
Idiopathic Bronchiectasis
Bronchiectasis, Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus inf... ORPHA:60033
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Obesity, Recurrent upper respiratory tract infections, Decreased pro... ORPHA:179494
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Sinusitis, Leukemia, Defective B cell differe... OMIM:208900
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Recurrent bacterial infections, Splenomegaly,... OMIM:603903
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Mody
Large for gestational age, Glycosuria, Neonatal hypoglycemia, Obesity, Overweight, Insulin-resist... ORPHA:552
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Schimke Immuno-Osseous Dysplasia
Recurrent infections, Bone marrow hypocellularity, Small for gestational age, Abnormal proportion... ORPHA:1830
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Severe infection, Pancreatitis, Thrombocytopenia, Diarrhea, Blood... ORPHA:544482
Aregenerative Anemia
Pancytopenia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive helper T... ORPHA:101096
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Dysphagia, Inflammatory abnormality... ORPHA:3260
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Recurrent bacterial infections, Splenomegaly, Decreased circulating antib... OMIM:248500
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Ulcerative colitis, Chronic neutropenia, Periodontitis, Recurrent bacterial infections, Protubera... ORPHA:79259
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231214
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, Flexion contracture, HbH hemoglobin ORPHA:98791
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Colitis, Iron deficiency anemia, Abdominal disten... ORPHA:309031
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Meningitis, Decreased proportion of CD8-positive T c... ORPHA:217260
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Bronchiectasis, Intestinal atresia, Dy... OMIM:619708
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Failure to thrive, Diarrhea, Recurrent candida infections... OMIM:201100
Primary Ciliary Dyskinesia
Recurrent otitis media, Chronic rhinitis, Recurrent mycobacterial infections, Intestinal malrotat... ORPHA:244
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Recurrent bacterial infections, Feeding difficulties, ... ORPHA:2176
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Increased circulating IgM level, Interfa... ORPHA:562639
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Failure to thrive, Pancreatitis OMIM:615947
Glycogen Storage Disease Ib
Protuberant abdomen, Recurrent bacterial infections, Neutropenia, Pancreatitis, Hepatocellular ca... OMIM:232220
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Reactive Arthritis
Weight loss, Arthritis, Conjunctivitis, Inflammation of the large intestine, Recurrent aphthous s... ORPHA:29207
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Fa... OMIM:258900
Lysinuric Protein Intolerance
Hepatic failure, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Recurrent bacterial infections... ORPHA:470
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Irregular ossification at anteri... OMIM:260400
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Recurrent respiratory infections, Impaired T cell function ORPHA:30
Kindler Epidermolysis Bullosa
Recurrent skin infections, Colitis, Periodontitis, Inflammation of the large intestine, Anemia, E... ORPHA:2908
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Bifid uvula, Recurrent viral infections, Small for gestatio... ORPHA:2959
Hermansky-Pudlak Syndrome 1
Colitis, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:203300
Plague
Bloody diarrhea, Lymphadenitis, Erythema nodosum, Arthritis, Inflammatory abnormality of the eye,... ORPHA:707
Sapho Syndrome
Recurrent skin infections, Chronic diarrhea, Acne, Inflammation of the large intestine, Abdominal... ORPHA:793
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hypereosinophilia, Decre... ORPHA:508533
Primary Sclerosing Cholangitis
Abnormal large intestine physiology, Adenocarcinoma of the large intestine, Hepatosplenomegaly, U... ORPHA:171
Congenital Factor Xiii Deficiency
Hepatic failure, Myeloid leukemia, Inflammation of the large intestine ORPHA:331
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormal salivary gland morphology, Uveitis, Weight loss, Abnormality of T cell phy... OMIM:181000
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent otitis media, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, R... OMIM:607944
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Recurrent bacterial infections ORPHA:182
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Recurrent bacterial infections OMIM:241410
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Sacroiliac arthritis, Inflammation of the large intestine, Oligoarthritis, Ps... OMIM:106300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Increased... ORPHA:542323
Cocaine Intoxication
Intestinal perforation, Nausea, Bloody diarrhea, Colitis, Glomerulonephritis, Tubulointerstitial ... ORPHA:90068
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Allergic conjunctivitis, Small for gestational age, Impaired T cell f... OMIM:176690
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Umbilical hernia, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Flexion contracture ORPHA:847
Lead Poisoning
Cranial hyperostosis, Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnorma... ORPHA:330015
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Blepharitis, Uveitis, Scleritis, Recurrent bacterial infections, Aganglioni... ORPHA:2273
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Myeloproliferative disorder, Obesity, Inflammation of the large intestine ORPHA:70591
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, High palate, Bifid uvula, Gastroesophageal reflux, Pyloric steno... OMIM:617137
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Velocardiofacial Syndrome
Recurrent infections, Velopharyngeal insufficiency, Impaired T cell function, Submucous cleft har... OMIM:192430
Digeorge Syndrome
High palate, Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Bifid uvula, Gast... OMIM:188400
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99413
Turner Syndrome
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:881
Mosaic Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99228
Monosomy X
Gastrointestinal angiodysplasia, High palate, Recurrent otitis media, Gastrointestinal inflammati... ORPHA:99226
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Gastrointestinal hemorrhage, Arthritis, Constipation, Intestinal... ORPHA:567
Mowat-Wilson Syndrome
Recurrent infections, Recurrent otitis media, Bifid uvula, Decreased body weight, Constipation, G... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Recurrent aspiration pneumonia, Feeding difficulties,... ORPHA:642
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Cleft palate, Abnormality of T cell physiology ORPHA:2237

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 Gpr15

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 Gpr15.

There are 17 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
EMX2-GPR156-Gαi reverses hair cell orientation in mechanosensory epithelia. Nature communications (May 2021) Gpr156tm1.1(KOMP)Vlcg PMC8129141
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gpr152tm1b(EUCOMM)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Gpr152tm1b(EUCOMM)Wtsi