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Gene: Gpr15 MGI:1918473

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Gene Summary

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

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Gpr15em1(IMPC)J HOM Early adult 1.29×10-08
impaired glucose tolerance Gpr15em1(IMPC)J HOM Early adult 9.72×10-06
decreased mean corpuscular hemoglobin concentration Gpr15em1(IMPC)J HOM Early adult 1.14×10-05
decreased lean body mass Gpr15em1(IMPC)J HOM Early adult 5.29×10-07
decreased bone mineral content Gpr15em1(IMPC)J HOM Early adult 7.31×10-07
decreased mean corpuscular hemoglobin Gpr15em1(IMPC)J HOM Early adult 3.59×10-05

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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.

X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

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Auditory Brain Stem Response

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

8 Images

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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 respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... OMIM:614372
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, ... OMIM:269840
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... OMIM:618108
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph... OMIM:209920
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, Severe viral infection, T lymphocytopenia, Ab... OMIM:615617
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in ... OMIM:607594
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Diarrhea, Chronic mucocutane... OMIM:608971
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, T lymphoc... OMIM:601457
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... OMIM:300635
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... OMIM:243700
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opportunistic infec... ORPHA:277
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Tube feeding,... OMIM:619510
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ... OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Immunodeficiency 40
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Eosinop... OMIM:616433
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... ORPHA:35078
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... OMIM:617514
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Failure to thrive, Reduced natural killer cell activity... OMIM:616050
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Decreased circulating total IgM, ... OMIM:618987
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Im... OMIM:613179
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 102
Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Partial a... OMIM:301082
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, Leukocytosi... OMIM:619652
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Chr... OMIM:102700
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,... OMIM:301074
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Sever... ORPHA:2686
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... OMIM:301000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233710
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colit... ORPHA:37042
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:233690
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection OMIM:618309
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis, Sepsis, Hepa... OMIM:612840
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Diarrhea, Recurrent upper respiratory tract infections,... OMIM:615758
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Recurrent infections, Bloody diar... OMIM:617718
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... OMIM:242860
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit... ORPHA:810
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... OMIM:608233
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Splenomegaly, Erythrode... ORPHA:540
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit... OMIM:306400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, ... OMIM:606176
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:613011
Immunodeficiency 10
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections OMIM:612783
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Mirage Syndrome
Recurrent urinary tract infections, Esophageal stricture, Chronic diarrhea, Sepsis, Anemia, Leuko... OMIM:617053
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... OMIM:613960
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurre... OMIM:609536
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Decreased specific anti-p... OMIM:614576
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal ab... OMIM:612541
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Sepsis In Premature Infants
Neonatal sepsis, Disseminated viral infection, Small for gestational age, Splenomegaly, Leukocyto... ORPHA:90051
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Recurrent v... OMIM:242840
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... OMIM:619573
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a... ORPHA:99867
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Chronic diarrhea, Decreased circulating antibo... OMIM:300972
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... ORPHA:2137
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Hematochezia... OMIM:615895
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ... OMIM:615966
Syndromic Diarrhea
Dependency on intravenous nutrition, Villous atrophy, Gastritis, Hepatoblastoma, Increased mean p... ORPHA:84064
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... ORPHA:48435
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:66628
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... ORPHA:179494
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Ataxia-Telangiectasia
Decreased circulating IgG level, Failure to thrive, Sinusitis, Recurrent bronchitis, Decreased ci... OMIM:208900
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, In... ORPHA:36412
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi... ORPHA:90038
Roifman Syndrome
Eosinophilia, Eczema, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Sickle Cell Disease
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacte... OMIM:603903
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Abnormal lymphocyte physi... ORPHA:1830
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... ORPHA:544482
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis OMIM:301220
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Neoplasm of the gallbladder, Aden... ORPHA:171
Glycogen Storage Disease Ib
Hepatocellular carcinoma, Splenomegaly, Gout, Recurrent bacterial infections, Inflammation of the... OMIM:232220
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... ORPHA:3260
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macroglossia, Recurre... OMIM:248500
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Dysgammaglobulinemia,... OMIM:251260
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, R... ORPHA:79259
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231214
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia ORPHA:98791
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... ORPHA:244
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Recurrent candida infections, Fa... OMIM:201100
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Hyperlipoproteinemia, Type Id
Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Lysinuric Protein Intolerance
Failure to thrive, Glomerulonephritis, Diarrhea, Steatorrhea, Hepatosplenomegaly, Anemia, Leukope... ORPHA:470
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... OMIM:617052
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... OMIM:260400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp... ORPHA:707
Progeria-Short Stature-Pigmented Nevi Syndrome
Small for gestational age, Recurrent viral infections, Microcytic anemia, T lymphocytopenia, Gast... ORPHA:2959
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infection... OMIM:232240
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Anorexia, Splenomegaly, Iridocyclitis, Bronchiect... OMIM:181000
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recu... OMIM:607944
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure, Polycythemia OMIM:606812
Lead Poisoning
Small for gestational age, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell... ORPHA:330015
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... ORPHA:542323
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Allergic rhinitis, Recurrent viral infection... OMIM:176690
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Narrow palate, Cleft palate, T lymphocytopenia, Abnormal B cell morphology... OMIM:618223
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... ORPHA:2273
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder, Obesity ORPHA:70591
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Velocardiofacial Syndrome
Impaired T cell function, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate... OMIM:192430
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, High, narrow palate, Recurre... OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99413
Turner Syndrome
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:881
Mosaic Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... ORPHA:99226
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Acne, Impaired T cell function, Aganglionic megacolon, Intestinal ma... ORPHA:567
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gas... ORPHA:2152
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Feeding difficulties, Recurrent Staphylococcus aureus infectio... ORPHA:642
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate 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 19 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
G protein-coupled receptor 158 modulates sensitivity to the sedative-hypnotic effect of ethanol in male mice. Alcohol (Hanover, York County, Pa.) (May 2023) Gpr158tm1(KOMP)Vlcg 37128649
Orphan receptor GPR158 serves as a metabotropic glycine receptor: mGlyR. Science (New York, N.Y.) (March 2023) Gpr158tm1(KOMP)Vlcg 36996198
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 PMC7338221
Gpr158 Deficiency Impacts Hippocampal CA1 Neuronal Excitability, Dendritic Architecture, and Affects Spatial Learning. Frontiers in cellular neuroscience (October 2019) Gpr158tm1(KOMP)Vlcg PMC6843000
Mediation of the Acute Stress Response by the Skeleton. Cell metabolism (September 2019) Gpr158tm1.1(KOMP)Vlcg 31523009
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gpr152tm1b(EUCOMM)Wtsi PMC6671969
The signaling proteins GPR158 and RGS7 modulate excitability of L2/3 pyramidal neurons and control A-type potassium channel in the prelimbic cortex. The Journal of biological chemistry (July 2019) Gpr158tm1(KOMP)Vlcg PMC6721952
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Gpr152tm1b(EUCOMM)Wtsi PMC6459510
GPR158 in the Visual System: Homeostatic Role in Regulation of Intraocular Pressure. Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics (March 2019) Gpr158tm1(KOMP)Vlcg 30855200
Inhibitory Signaling to Ion Channels in Hippocampal Neurons Is Differentially Regulated by Alternative Macromolecular Complexes of RGS7. The Journal of neuroscience : the official journal of the Society for Neuroscience (October 2018) Gpr158tm1(KOMP)Vlcg 30315127
Homeostatic cAMP regulation by the RGS7 complex controls depression-related behaviors. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology (October 2018) Gpr158tm1(KOMP)Vlcg 30546127
An Input-Specific Orphan Receptor GPR158-HSPG Interaction Organizes Hippocampal Mossy Fiber-CA3 Synapses. Neuron (October 2018) Gpr158tm1(KOMP)Vlcg PMC6351853
Orphan receptor GPR158 controls stress-induced depression. eLife (February 2018) Gpr158tm1(KOMP)Vlcg PMC5823542
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Gpr152tm1b(EUCOMM)Wtsi PMC5638796
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Gpr152tm1b(EUCOMM)Wtsi PMC5827107
Gpr158 mediates osteocalcin's regulation of cognition. The Journal of experimental medicine (August 2017) Gpr158tm1(KOMP)Vlcg PMC5626410
Orphan Receptor GPR158 Is an Allosteric Modulator of RGS7 Catalytic Activity with an Essential Role in Dictating Its Expression and Localization in the Brain. The Journal of biological chemistry (March 2015) Gpr158tm1(KOMP)Vlcg PMC4447942

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MGI Allele Allele Type Produced
Gpr15em1(IMPC)Bay Exon Deletion Mice
Gpr15em1(IMPC)J Indel Mice

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