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Gene: Gpr15 MGI:1918473

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 2.09×10-06
decreased bone mineral content Gpr15em1(IMPC)J HOM Early adult 7.31×10-07
abnormal startle reflex Gpr15em1(IMPC)J HOM   Late adult 2.82×10-06
decreased mean corpuscular hemoglobin concentration Gpr15em1(IMPC)J HOM Early adult 1.14×10-05
decreased mean corpuscular hemoglobin Gpr15em1(IMPC)J HOM Early adult 3.59×10-05
decreased lean body mass Gpr15em1(IMPC)J HOM Early adult 5.29×10-07

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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 Whole Body Dorso Ventral

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X-ray

XRay Images Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Combined SHIRPA and Dysmorphology

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4 Images

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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, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Ab... OMIM:613501
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respirat... OMIM:613953
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn... OMIM:618204
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int... OMIM:619281
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
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia... OMIM:312863
Mhc Class Ii Deficiency 1
Recurrent viral infections, Protracted diarrhea, Neutropenia, Recurrent lower respiratory tract i... OMIM:209920
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly... OMIM:615401
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV... OMIM:619437
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 19
Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Fail... OMIM:615617
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,... OMIM:607594
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B lymp... OMIM:619164
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogamma... OMIM:269840
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria... ORPHA:169079
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Diarrhea, Protracted diarrhea, Pancytopenia, ... ORPHA:572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent... OMIM:300310
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... ORPHA:276
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:608971
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag... OMIM:267500
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Conjunctiv... OMIM:240500
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C... OMIM:607271
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Abn... ORPHA:98813
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r... OMIM:300635
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly... OMIM:620632
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i... ORPHA:2688
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,... ORPHA:331206
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Diarrhea, Failure to thrive, I... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo... OMIM:615206
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte prolifera... ORPHA:83471
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop... OMIM:618394
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono... OMIM:300299
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... ORPHA:169154
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur... OMIM:193670
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... OMIM:618806
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ... OMIM:616941
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Panhypogammaglobulinemi... OMIM:601495
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrh... OMIM:619693
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ... OMIM:243700
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida... ORPHA:217390
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
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
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ... OMIM:600802
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Esophagea... OMIM:615468
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease... OMIM:614878
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Failure to thrive in infancy... OMIM:617241
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Decrea... OMIM:615607
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di... OMIM:610163
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho... OMIM:615518
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... OMIM:606367
Immunodeficiency 20
Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent otitis m... OMIM:615707
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Rec... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... ORPHA:35078
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Reduced natural killer ... OMIM:616050
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ... ORPHA:443811
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c... OMIM:618048
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac... OMIM:614172
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn... OMIM:212050
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Recurrent enteroviral infections, Septic arthritis, C... OMIM:307200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Recurrent lower respirato... ORPHA:436159
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... ORPHA:169160
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia, Recurrent bacterial infections ORPHA:86788
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Aplastic anemia, Diarrhea, Periodontitis, Lymphopenia, Rec... ORPHA:486
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ... OMIM:612567
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent... OMIM:618131
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased ly... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Diarrhea, Inflammatory abnormality of the skin, Increased circulating... OMIM:102700
Immunodeficiency 92
Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res... OMIM:619652
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti... OMIM:618982
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Cyclic Neutropenia
Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Lymphopenia, Cyclic neutro... ORPHA:2686
Immunodeficiency 96
Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp... OMIM:619774
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-positive T cells, Lymp... OMIM:301000
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Omenn Syndrome
Pneumonia, Recurrent viral infections, Diarrhea, Failure to thrive, Splenomegaly, Recurrent bacte... OMIM:603554
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Immunodeficiency 68
Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A... OMIM:612260
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE... OMIM:620532
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... OMIM:300755
Immunodeficiency 23
Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ... OMIM:615816
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233710
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese... ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Intractable diarrhea, Failure to thrive, Recurrent otitis media, Rec... OMIM:617475
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233690
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis OMIM:618309
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Chronic diarrhea, ... OMIM:116920
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Eczema... OMIM:620565
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Recurrent viral infections, Failure to thrive, Hepatosplenomegaly, Colonic eos... OMIM:618999
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Leukocyte Adhesion Deficiency, Type Iii
Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Recurrent b... OMIM:612840
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Radiation Proctitis
Hematochezia, Diarrhea, Sepsis, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstr... ORPHA:70475
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Failure ... OMIM:615758
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Decreased lymphocyte proli... ORPHA:221139
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Immunodeficiency 66
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections OMIM:618847
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent aspiration pneumonia, Recurrent viral infection... ORPHA:79124
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Recurrent pneumonia, Inflammation of the large inte... OMIM:617718
Secondary Short Bowel Syndrome
Diarrhea, Sepsis, Failure to thrive, Vomiting, Volvulus, Malnutrition, Malabsorption, Villous atr... ORPHA:95427
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ... ORPHA:169090
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... OMIM:619313
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media OMIM:300455
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit... ORPHA:51636
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
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
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial infections... OMIM:603585
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Malar rash, Autoimmune ... OMIM:603909
Shigellosis
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Blo... ORPHA:810
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti... OMIM:306400
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Small for ge... OMIM:606176
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased liver function, Reduced natural killer cell activity, Splenomegaly, S... ORPHA:540
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Aspiration pneumonia, Lympho... OMIM:617053
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intesti... ORPHA:391487
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Esophagitis, Eosinophilic, 1
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia OMIM:613412
Sepsis In Premature Infants
Diarrhea, Invasive fungal infection, Abdominal distention, Vomiting, Decreased liver function, Fu... ORPHA:90051
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal obstruction, Constrictive ... ORPHA:67
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Neutropenia, Recurrent lower respiratory tract infections, High ... OMIM:612541
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Lymphopenia, Decreased CD4:CD8 ratio, Persistent EBV viremia, Atrophi... OMIM:619573
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Reduced bone mine... ORPHA:848
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Failure to thrive,... OMIM:242840
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Increased circulating Interferon-alpha concentration, Splenomegaly, Thrombocyto... OMIM:615010
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Abnor... ORPHA:99867
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Failure to thrive, Chronic ... OMIM:300972
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ... OMIM:610984
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Splenomegaly, Sclerosing cholan... ORPHA:2137
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ... ORPHA:811
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid d... OMIM:615895
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Syndromic Diarrhea
Intractable diarrhea, Panhypogammaglobulinemia, Bloody diarrhea, Lymphopenia, Villous atrophy, Sp... ORPHA:84064
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Recurr... OMIM:615966
Idiopathic Bronchiectasis
Recurrent Haemophilus influenzae infections, Cachexia, Acute infectious pneumonia, Recurrent lowe... ORPHA:60033
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Weight loss, Increase... ORPHA:48435
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:66628
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Nausea and vomiting, Splenomegaly, Episcleritis, Skin rash, Inflammator... ORPHA:36412
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s... OMIM:214500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:179494
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto... ORPHA:167
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Failure to thrive, Conjunctivitis, Parotitis, Hepatosplenomegaly, De... OMIM:620376
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Failure to thrive OMIM:301108
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abdominal distention, Abnormal pr... ORPHA:1830
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Aregenerative Anemia
Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv... ORPHA:101096
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin... OMIM:617237
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Gastrointestinal infarctions, Hemol... ORPHA:544482
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Protuberant abdomen, Neutr... OMIM:232220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Ulcerative colit... ORPHA:79259
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Nijmegen Breakage Syndrome
Recurrent pneumonia, Diarrhea, Anal stenosis, Recurrent urinary tract infections, Recurrent otiti... OMIM:251260
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased cir... OMIM:248500
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Cystic Fibrosis
Decreased body mass index, Gastroesophageal reflux, Failure to thrive, Recurrent respiratory infe... ORPHA:586
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Impaired T cell function, Recurrent candida infections, Splenomegaly... OMIM:201100
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, HbH hemoglobin, Failure to thrive ORPHA:98791
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Recurrent otitis media, Intestin... ORPHA:244
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Weight loss, Kerato... ORPHA:309031
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections OMIM:244460
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ... OMIM:619708
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... OMIM:258900
Infantile Systemic Hyalinosis
Failure to thrive, Malabsorption, Abnormality of the gastrointestinal tract, Recurrent bacterial ... ORPHA:2176
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Gran... ORPHA:562639
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Umbilical hernia, Persistence of hemoglobin F OMIM:619769
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Colitis OMIM:615947
Lysinuric Protein Intolerance
Hepatic failure, Diarrhea, Vomiting, Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplen... ORPHA:470
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,... ORPHA:29207
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior ... OMIM:260400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo... ORPHA:508533
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ... ORPHA:2908
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Gastroesophageal reflux, Recurrent viral infections, Microcytic anemia, Episodic vom... ORPHA:2959
Glycogen Storage Disease Ic
Recurrent upper respiratory tract infections, Inflammation of the large intestine, Cyclic neutrop... OMIM:232240
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly... OMIM:181000
Hermansky-Pudlak Syndrome 1
Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia OMIM:203300
Primary Sclerosing Cholangitis
Uveitis, Hepatitis, Celiac disease, Acute hepatic failure, Hepatosplenomegaly, Splenomegaly, Chro... ORPHA:171
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren... OMIM:607944
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron... ORPHA:793
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Chromomycosis
Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:542323
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Fumarase Deficiency
Hepatic failure, Polycythemia, Failure to thrive, High palate, Necrotizing enterocolitis OMIM:606812
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia, Small ... ORPHA:330015
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration ORPHA:85410
Patent Urachus
Abdominal pain, Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Recurrent viral infections, Vomiting, Impaired T cell function, Allergic conju... OMIM:176690
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Tay-Sachs Disease
Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia ORPHA:845
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Flexion contracture, Abnormal hemoglobin ORPHA:847
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus, Narrow palate, T lympho... OMIM:618223
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Failure to thrive, Recurrent respiratory infections, Eczematoid dermatitis, Episclerit... ORPHA:2273
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Obesity, Myeloproliferative disorder, Osteomyelitis ORPHA:70591
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Combined Oxidative Phosphorylation Deficiency 58
Exaggerated startle response OMIM:620451
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Impaired T cell function, Submucous cleft hard palate, Recurrent in... OMIM:192430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co... OMIM:617137
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Exaggerated startle response OMIM:620423
Digeorge Syndrome
High, narrow palate, Bifid uvula, Recurrent pneumonia, Gastroesophageal reflux, Impaired T cell f... OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Recurrent... ORPHA:99413
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Failure to thrive, Impaired T cell function... ORPHA:567
Turner Syndrome
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Recurrent... ORPHA:881
Mosaic Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Recurrent... ORPHA:99228
Monosomy X
High, narrow palate, Inflammation of the large intestine, Failure to thrive in infancy, Recurrent... ORPHA:99226
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... ORPHA:2152
Bardet-Biedl Syndrome
Inflammation of the large intestine, Obesity, Otitis media, Aganglionic megacolon, Childhood-onse... ORPHA:110
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Tooth absces... ORPHA:642
Alkaptonuria
Methemoglobinemia, Reduced bone mineral density, Hemolytic anemia ORPHA:56
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology, Cleft palate ORPHA:2237
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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)