Gene Summary

Name:
V-set immunoregulatory receptor
Synonyms:
VISTA,  Dies1,  4632428N05Rik,  PD-1H

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.8% (4 of 502)
aorta 0.0%
blood 0.0%
bone marrow 0.0%
brain 0.4% (2 of 498)
brainstem 0.39% (2 of 511)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 506)
cecum 2.85% (9 of 316)
cerebellum 0.59% (3 of 506)
cerebral cortex 0.4% (2 of 505)
chest bone Unavailable
colon 10.71% (12 of 112)
diaphragm 0.0%
duodenum 1.89% (2 of 106)
epididymis 15% (18 of 120)
esophagus 2.03% (7 of 344)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.42% (2 of 478)
hindlimb 0.0%
hippocampus 0.58% (3 of 520)
hypothalamus 0.39% (2 of 508)
ileum 11.61% (13 of 112)
jejunum 5.61% (6 of 107)
kidney 3.79% (19 of 501)
large intestine 1.41% (7 of 495)
liver 0.0%
lower urinary tract 0.19% (1 of 514)
lung 0.2% (1 of 499)
lymph node 0.2% (1 of 508)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.41% (2 of 493)
ovary 0.19% (1 of 516)
oviduct 0.0%
pancreas 1.03% (5 of 487)
parathyroid gland 0.21% (1 of 470)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 525)
peyers patch 0.0%
pituitary gland 0.2% (1 of 502)
prostate gland 1.99% (10 of 502)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.2% (1 of 498)
small intestine 1.61% (8 of 497)
spinal cord 0.59% (3 of 506)
spleen 0.6% (3 of 498)
stomach 2.05% (10 of 487)
stomach pyloric region 0.0%
striatum 0.6% (3 of 499)
sublingual gland 0.0%
submandibular gland 1.77% (2 of 113)
testis 1% (5 of 500)
thymus 0.21% (1 of 487)
thyroid gland 3.16% (16 of 507)
tongue 4.39% (5 of 114)
trachea 0.6% (3 of 498)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.27% (14 of 328)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

9 Images

Human diseases caused by Vsir 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 Vsir by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Splenomegaly, Br... OMIM:615513
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Fluctua... OMIM:619220
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgG level, Complete or near-complete absence of specif... OMIM:610163
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Eczema, Bronchiol... OMIM:617241
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Increased circulating IgA l... OMIM:619632
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased specifi... OMIM:615897
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation OMIM:615615
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Recurre... OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activity, Increased... OMIM:308240
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Panhypogammaglobulinemia, Eczematoid dermatitis OMIM:269840
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Recurre... OMIM:618495
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:240500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Hepatosplenomegaly, Increased circulating IgM level, ... OMIM:209950
Schnitzler Syndrome
Increased circulating IgM level, Splenomegaly, Hepatomegaly, Arthritis, Skin rash ORPHA:37748
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections OMIM:609529
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, Cirrhosis, He... OMIM:231100
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Increased circulating IgG level, Hepatosplenomegaly... ORPHA:169154
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Increased circulating IgG level, Uveitis, Increased circulating IgA level, Sp... OMIM:617388
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Recurrent uppe... OMIM:616100
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Increa... OMIM:178500
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Hepatosplenomegaly, Bronchiectasis, Herp... OMIM:618982
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased circulating ... OMIM:618969
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Reduced na... OMIM:619281
Immunodeficiency 50
Eczema, Recurrent respiratory infections, Decreased circulating antibody level OMIM:300988
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG level OMIM:618987
Iga Pemphigus
Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA level, Monocl... ORPHA:555905
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Hepatosplenomegaly, Chronic oral... ORPHA:169160
X-Linked Lymphoproliferative Disease
Decreased circulating IgG level, Hepatic failure, Hepatic necrosis, Increased circulating IgA lev... ORPHA:2442
Pediatric Hepatocellular Carcinoma
Hepatic necrosis, Hepatomegaly, Hepatic fibrosis ORPHA:33402
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Inflammation of the large intestine, Recurrent ... OMIM:615767
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Hepatomegaly, Recurrent aphthous stomatitis, Arthritis ORPHA:343
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Increased circulating IgG level, Increased circulating IgA level, Recurrent respiratory... OMIM:615934
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Paraprotei... ORPHA:91139
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Gastrointestinal inflammation, Increased... ORPHA:186
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Immunodeficiency 15B
Respiratory tract infection, Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Decreased circulating ... OMIM:242860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respiratory tract infecti... ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Cholangitis, Decreased circul... OMIM:619652
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema, Elevat... ORPHA:83313
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Skin rash, Increased circulating IgM level OMIM:617099
Pgm3-Cdg
Reduced antigen-specific T cell proliferation, Recurrent pneumonia, Increased circulating IgG lev... ORPHA:443811
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr... OMIM:619510
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Increased hepatitis B virus antibody... ORPHA:90003
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Hepatomegaly OMIM:615285
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Recurrent aphthous stomatitis, Hepatitis, Premature ova... ORPHA:3261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Decreased CD69 upregulation upon TCR activat... OMIM:300853
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Increased circulating IgA level, Splenomegaly, Chronic oral ca... OMIM:260920
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Hashimoto thyroiditis, Decreased circulating IgA level, Recurren... ORPHA:275
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:615577
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Pulmonary fibrosis, Decreased c... OMIM:611926
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Myeloma, Multiple
Paraproteinemia OMIM:254500
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Increased circulating antibody ... ORPHA:69126
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level OMIM:313900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Recurrent upper respiratory tract infectio... OMIM:615559
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Chilblain Lupus
Increased circulating antibody level, Malar rash, Discoid lupus rash, Inflammatory abnormality of... ORPHA:90280
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Splenomegaly OMIM:183350
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Increased circulati... OMIM:243700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Rheumatoid... ORPHA:183675
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly, Decreased circulating antibod... ORPHA:586
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Decreas... OMIM:300755
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Atopic dermatitis, Splenomegaly, Hepatomegaly OMIM:615846
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Hepatocellular necrosis, Necrotizing entero... OMIM:201475
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Increased circulating IgE level OMIM:212050
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Hepatomegaly ORPHA:100024
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent sinusitis, Recurrent respiratory infections, Atopic dermatitis, Chronic otit... ORPHA:217390
Postinfectious Vasculitis
Viral hepatitis, Recurrent streptococcus pneumoniae infections, Pneumonia, Gastrointestinal infla... ORPHA:48435
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis, Incr... OMIM:618523
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infection... OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Hepatosple... ORPHA:35078
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism OMIM:616395
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Thyroiditis, Increased circulating IgE level OMIM:618985
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgM level, Bronchiectasis, Eczema, Recurre... OMIM:615816
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Cholangitis, Agammaglobulinemia, I... OMIM:209920
Reticular Dysgenesis
Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function OMIM:267500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Skin rash OMIM:618048
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Eczematoid dermatitis,... OMIM:147060
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Carcinoid Syndrome
Hepatic necrosis, Elevated hepatic transaminase ORPHA:100093
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Liver abscess, Hypersplenism, Bronchitis, Hip oste... ORPHA:1304
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Bone marrow hypocellularity, Patent ductus arteriosus, Increased circulating... OMIM:617303
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Decreased circulating total IgM, Uveitis... OMIM:614700
Insulin-Resistance Syndrome Type B
Biliary cirrhosis, Abnormal salivary gland morphology, Increased circulating IgG level, Pneumonia... ORPHA:2298
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent upper res... OMIM:301000
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, C... ORPHA:171
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG level ORPHA:2643
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Pleural effusion,... ORPHA:29073
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Glomerulonep... ORPHA:2137
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Immunodeficiency 66
Recurrent skin infections, Defective T cell proliferation, Pustule OMIM:618847
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased circulating IgA level, Pulmonary interstitial lymphocyte infiltrati... OMIM:606367
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Zika Virus Disease
Increased circulating IgM level, Arthritis, Infectious encephalitis, Maculopapular exanthema, Mye... ORPHA:448237
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the submandibular glands, Abnormal salivary gland morphology, Myositis, Increased ... ORPHA:79078
Lassa Fever
Conjunctivitis, Jaundice, Increased circulating IgM level ORPHA:99824
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Hepatic failure, Cholangitis, Bronchiectasis, Recurr... OMIM:615207
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatomegaly, Hepatic periportal necrosis, Jaundice, Pulmonary hypoplasia OMIM:231680
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatomega... OMIM:618278
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:251190
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Recurrent upper respiratory tract infections, Increased circulating IgG l... OMIM:256040
Immunodeficiency 67
Increased circulating IgE level, Liver abscess OMIM:607676
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Aplasia of the thymus, Eczema... OMIM:242700
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Abnormal ... ORPHA:400
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Pleural effu... ORPHA:3392
Lichtenstein Syndrome
Recurrent respiratory infections, Decreased circulating IgA level OMIM:246550
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Decreased liver function, Hepatomegaly, Hepatic periportal necrosis, Elevated... ORPHA:26791
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Lack of T cell function, Decreased circulating antibody level,... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Sinusitis, Pneumonia, Decreased circulating... OMIM:102700
Coccidioidomycosis
Abnormality of the liver, Increased circulating IgG level, Pneumonia, Erythema nodosum, Increased... ORPHA:228123
Rift Valley Fever
Increased circulating IgG level, Uveitis, Increased circulating IgM level, Infectious encephaliti... ORPHA:319251
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Increased circulating antibody level, Rheumatoid a... ORPHA:48104
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Decreased circulating ... OMIM:618042
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level ORPHA:90368
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Prolidase Deficiency
Recurrent pneumonia, Elevated circulating aspartate aminotransferase concentration, Splenomegaly,... OMIM:170100
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Recurrent upper respiratory tract infections, C... OMIM:618131
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Leishmaniasis
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Rhinitis, Elevated hepatic tran... ORPHA:507
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, Abnormality of B... OMIM:600802
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:210900
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Splenomegaly, Hepatomegaly, Conjunctivitis, Increased circulating antibody l... OMIM:617591
Selective Igm Deficiency
Hashimoto thyroiditis, Rheumatoid arthritis, Otitis media, Fasciitis, Keratitis, Recurrent pneumo... ORPHA:331235
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating antibody... ORPHA:449400
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Pneumocystosis
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Increased circulating antib... ORPHA:723
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Infectious encephalitis, Pleural effusion, Br... ORPHA:1163
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Hepatocellular Carcinoma
Abnormality of the liver, Portal hypertension, Hepatomegaly, Jaundice, Hepatic necrosis, Abnormal... ORPHA:88673
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Decreased ... OMIM:612301
Caffey Disease
Increased circulating antibody level ORPHA:1310
Igg4-Related Submandibular Gland Disease
Abnormality of the submandibular glands, Abnormal salivary gland morphology, Increased circulatin... ORPHA:449432
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Hepatosplenomegaly, Bone marrow hypocellularity, Patent ductus a... ORPHA:505248
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... ORPHA:90362
Q Fever
Abnormality of the liver, Pneumonia, Hepatosplenomegaly, Infectious encephalitis, Maculopapular e... ORPHA:781
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgG level, Increased circulating IgM l... ORPHA:297
Netherton Syndrome
Emphysema, Decreased circulating antibody level, Eczema, Erythroderma, Recurrent respiratory infe... ORPHA:634
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Membranoproliferative glomeruloneph... ORPHA:329918
Myotonic Dystrophy 2
Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:602668
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:275350
Acute Liver Failure
Hepatocellular necrosis, Hepatic periportal necrosis, Jaundice, Hepatic necrosis, Hepatitis, Elev... ORPHA:90062
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Portal hypertension, Hashimoto thyroiditis, Decreased circulating IgA level, Splenomegaly, Hepato... OMIM:613385
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Hepatic failure, Increased circulating IgG level, Erythema nodosum, Diffuse a... ORPHA:99827
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:542323
Japanese Encephalitis
Increased circulating antibody level, Infectious encephalitis, Pulmonary edema, Increased circula... ORPHA:79139
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Female hypogonadism, Defective B cell differentiation... OMIM:208900
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, Decreased c... ORPHA:79330
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion, Increased circulating Ig... ORPHA:284227
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Cholestasis, Splenomegaly, Hepatomegaly, Impaired T cell function, Infl... OMIM:614576
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Glomerulonephritis, Eczema, Erythroderma, Hepatitis, Increased circulating IgE level OMIM:304790
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Alveolar Echinococcosis
Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cutaneous abscess, Cholangitis, Decreas... ORPHA:284
Netherton Syndrome
Decreased circulating IgG level, Allergic rhinitis, Erythroderma, Increased circulating IgE level OMIM:256500
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Elevated circulating alani... ORPHA:99829
Sneddon Syndrome
Decreased circulating total IgM OMIM:182410
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atopic dermatitis, Pleural effusion, Increased circulating IgE level ORPHA:2902
Igg4-Related Kidney Disease
Decreased serum complement C4, Abnormality of the anterior pituitary, Prostatitis, Arteritis, Mem... ORPHA:449395
Alg12-Cdg
Recurrent pneumonia, Abnormal circulating IgA level, Partial absence of specific antibody respons... ORPHA:79324
Gaucher Disease Type 1
Biliary tract obstruction, Osteoarthritis, Hepatomegaly, Splenomegaly, Increased circulating anti... ORPHA:77259
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating total IgG, Decre... ORPHA:221139
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Euthyroid goiter, Hashimoto thyroiditis, Increased circulating IgG4 level... ORPHA:64744
Smith-Kingsmore Syndrome
Cryptorchidism, Decreased circulating IgA level OMIM:616638
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Abnormality of B cell physiol... OMIM:613179
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic steatosis, Decreased circulating IgA level, Hepatomegaly... OMIM:212065
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Uveitis, Pneumonia, Decreased c... ORPHA:125
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Splenomegaly, Hepatomegaly, Pleural effusion, Cryoglobul... ORPHA:33226
Ebola Hemorrhagic Fever
Increased circulating antibody level, Maculopapular exanthema, Hepatitis, Acute pancreatitis ORPHA:319218
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Sarcoidosis, Susceptibility To, 1
Emphysema, Abnormal salivary gland morphology, Uveitis, Abnormality of T cell physiology, Elevate... OMIM:181000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Recurrent skin infections, Pneumonia, Gastritis, Colitis, Interstitial pneumonitis, Tub... ORPHA:37042
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Osteomyelitis, Recurrent respiratory infections, Chronic otitis media, Increased circulat... ORPHA:2314
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Elevated hepatic ... OMIM:613327
Thymic Aplasia
Sinusitis, Recurrent streptococcus pneumoniae infections, Pneumonia, Chronic oral candidiasis, At... ORPHA:83471
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Recurrent otitis media, Crohn's disease, Recurrent skin infectio... OMIM:619381
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Decreased circulating IgA level ORPHA:457485
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Recurrent aphthous stomatitis, Eczema, Thyroiditis, Elevated hep... OMIM:212750
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Pancolitis, Recurrent respiratory i... OMIM:618213
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Primary Sjögren Syndrome
Decreased serum complement C4, Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Arteritis, A... ORPHA:289390
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Nephritis, Pancreatitis, A... ORPHA:449427
Hereditary Orotic Aciduria
Recurrent respiratory infections, Patent ductus arteriosus, Impaired T cell function, Splenomegaly ORPHA:30
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormality of the anterior pituitary, Cholangitis, Orchitis, Increased circulating Ig... ORPHA:449563
Mevalonic Aciduria
Hepatosplenomegaly, Fluctuating splenomegaly, Morbilliform rash, Fluctuating hepatomegaly, Elevat... OMIM:610377
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Patent ductus arteriosus, Decreased circulating IgA level, Hypop... ORPHA:369837
Dubowitz Syndrome
Decreased circulating IgG level, Cryptorchidism, Decreased circulating IgA level, Eczema, Otitis ... OMIM:223370
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Hypoplasia of the ovar... ORPHA:66628
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level OMIM:208910
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal lung morphology, Paraproteinemia ORPHA:167635
Al Amyloidosis
Abnormal salivary gland morphology, Abnormality of the liver, Pulmonary interstitial high-resolut... ORPHA:85443
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased testicular s... ORPHA:179494
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Cutaneous anergy, Decreased circula... OMIM:242840
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Acute colitis, Respira... ORPHA:544482
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... ORPHA:508533
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function, Decreased testicular size OMIM:201100
Congenital Analbuminemia
Increased circulating antibody level, Recurrent lower respiratory tract infections ORPHA:86816
Monosomy 18Q
Secondary growth hormone deficiency, Patent ductus arteriosus, Decreased circulating IgA level, B... ORPHA:1600
Gaucher Disease Type 3
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Recurrent respiratory infection... ORPHA:77261
Lysinuric Protein Intolerance
Hepatic failure, Hepatosplenomegaly, Intraalveolar phospholipid accumulation, Glomerulonephritis,... ORPHA:470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Decreased circulating total IgM, Superficial dermal perivascular inflammatory inf... ORPHA:83617
Aapoaiv Amyloidosis
Abnormal lung morphology, Paraproteinemia ORPHA:439232
Poems Syndrome
Increased circulating antibody level, Pleural effusion, Increased circulating prolactin concentra... ORPHA:2905
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function, Pancreatit... ORPHA:1830
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Scleritis, Posterior uveitis, Tubulointerstitial nephritis, Inte... ORPHA:91500
Gaucher Disease
Osteoarthritis, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Osteomyelitis, ... ORPHA:355
Cysticercosis
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis ORPHA:1560
Aregenerative Anemia
Bone marrow hypocellularity, Abnormality of interleukin secretion ORPHA:101096
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Velocardiofacial Syndrome
Cryptorchidism, Impaired T cell function, Unilateral primary pulmonary dysgenesis, Hypoparathyroi... OMIM:192430
Marburg Hemorrhagic Fever
Uveitis, Arthritis, Orchitis, Maculopapular exanthema, Jaundice, Increased circulating antibody l... ORPHA:99826
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Psoriasiform dermatitis, Abnormality of T cell physiology, Parathyroid hypopl... ORPHA:2237
Orotic Aciduria
Impaired T cell function OMIM:258900
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Allergic rhinitis, Impaired T cell function, Allergic conjunctiv... OMIM:176690
Viss Syndrome
Emphysema, Increased circulating IgG level, Patent ductus arteriosus, Pulmonary artery aneurysm, ... OMIM:619472
Simpson-Golabi-Behmel Syndrome
Hepatoblastoma, Cryptorchidism, Supernumerary nipple, Pancreatic islet-cell hyperplasia, Splenome... ORPHA:373
Digeorge Syndrome
Cholelithiasis, Recurrent otitis media, Recurrent pneumonia, Hepatic steatosis, Patent ductus art... OMIM:188400
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormal lung lobation, Patent ductus arteriosus, Cryptorchidism, Splenomegaly, A... ORPHA:567

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 Vsir

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 Vsir.

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

Title Journal IMPC Allele PubMed ID
Kidney VISTA prevents IFN-γ/IL-9 axis-mediated tubulointerstitial fibrosis after acute glomerular injury. The Journal of clinical investigation (January 2022) Vsirtm1(KOMP)Vlcg PMC8718152

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MGI Allele Allele Type Produced
Vsirtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Vsirtm100688(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Vsirtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Vsirtm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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