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Gene: Il31ra MGI:2180511

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Gene Summary

Name:
interleukin 31 receptor A
Synonyms:
GLM-R,  GPL

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Il31ratm1b(EUCOMM)Hmgu HOM Early adult 6.39×10-07
increased total body fat amount Il31ratm1b(EUCOMM)Hmgu HOM Early adult 5.13×10-06
decreased bone mineral content Il31ratm1b(EUCOMM)Hmgu HOM Early adult 5.21×10-07

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 50% (1 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Uterus  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex 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 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium 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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen 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)
Trachea N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 1)
Brain N/A homozygote 0.0% (0 of 1)
Ear N/A heterozygote 0.0% (0 of 1)
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 0.0% (0 of 1)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Heart N/A homozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A homozygote 0.0% (0 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote 0.0% (0 of 1)
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 1)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.37% (2 of 547)
aorta 0.0%
bone 0.0%
brain 0.72% (4 of 556)
brainstem 0.36% (2 of 557)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 553)
cerebellum 0.55% (3 of 546)
cerebral cortex 0.36% (2 of 555)
esophagus 1.57% (6 of 383)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 559)
hippocampus 0.55% (3 of 544)
hypothalamus 0.36% (2 of 550)
kidney 4.83% (27 of 559)
large intestine 5.25% (29 of 552)
liver 0.0%
lower urinary tract 0.18% (1 of 552)
lung 0.36% (2 of 550)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
olfactory lobe 0.37% (2 of 545)
oral epithelium 0.0%
ovary 0.18% (1 of 560)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.19% (1 of 536)
peripheral nervous system 0.18% (1 of 548)
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.4% (30 of 556)
spinal cord 0.54% (3 of 557)
spleen 0.55% (3 of 543)
stomach 3.78% (21 of 556)
striatum 0.55% (3 of 546)
testis 1.09% (6 of 550)
thymus 0.18% (1 of 551)
thyroid gland 3.1% (17 of 549)
trachea 0.54% (3 of 555)
uterus 0.37% (2 of 541)
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 510)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

View images
Echo

M-Mode Images

32 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Adult LacZ

LacZ Images Wholemount

7 Images

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Embryo LacZ

LacZ images wholemount

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

View images
FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

View images

Human diseases caused by Il31ra 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.

The table below shows human diseases associated to Il31ra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyloidosis, Primary Localized Cutaneous, 2
OMIM:613955

The table below shows human diseases predicted to be associated to Il31ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent infections, Recurrent oti... OMIM:618982
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Increased ... OMIM:615767
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Increased circulating IgG level, R... OMIM:610163
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... ORPHA:277
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Atopic dermatit... ORPHA:217390
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased specific pneumococcal ... OMIM:615897
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Chronic oral candidiasis, Deep dermatophytosis, Meningitis, Chronic tinea infectio... OMIM:212050
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased... OMIM:300400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Recurrent bacterial infe... OMIM:243700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Recurrent infections, Thyroiditis OMIM:618985
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C-reactiv... OMIM:619632
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections OMIM:615214
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fungal infections, Eczematoid dermatitis, Skin rash, Chronic mucocut... OMIM:147060
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency 50
Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Recurrent respi... OMIM:300988
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia,... OMIM:613501
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Decreased c... OMIM:619773
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level, Recur... OMIM:618523
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced delayed hypersensitivity, Increased circulating IgM level, Reduced antigen-specif... OMIM:617241
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Recurrent ear infections, Increased circulating I... OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sk... OMIM:619752
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169154
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Kimura Disease
Increased circulating IgE level ORPHA:482
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Increased circulating IgG level, Recurrent lower respiratory tract infecti... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:613502
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis OMIM:618847
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Recurrent inf... OMIM:137100
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac... ORPHA:70593
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Severe varicella zoster infection, Decreas... OMIM:300853
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Recurrent bronchitis, Pneumonia OMIM:312863
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Netherton Syndrome
Decreased circulating IgG level, Allergic rhinitis, Recurrent infections, Erythroderma, Increased... OMIM:256500
Immunodeficiency 48
Recurrent candida infections, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurre... OMIM:269840
Immunodeficiency 37
Recurrent infections, Colitis, Decreased circulating antibody level, Infectious encephalitis OMIM:616098
Immunoglobulin M, Level Of
Meningitis, Decreased circulating total IgM OMIM:308250
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... OMIM:619510
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:240500
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level OMIM:270300
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, Epididymitis, Decreased circulating IgE, Septic arthritis, Decreas... OMIM:300755
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:607594
Netherton Syndrome
Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Erythroderma, Incr... ORPHA:634
Immunodeficiency 23
Eczema, Membranoproliferative glomerulonephritis, Increased circulating IgE level, Increased circ... OMIM:615816
Immune Deficiency Disease
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... OMIM:242850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Ar... OMIM:601457
Pgm3-Cdg
Sepsis, Eczema, Chronic sinusitis, Bone marrow hypocellularity, Recurrent viral infections, Osteo... ORPHA:443811
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Inflammatory abnormality of the ski... OMIM:102700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Immunodeficiency 44
Decreased circulating IgA level, Abnormal circulating IgG level, Decreased circulating total IgM,... OMIM:616636
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Colitis, Viral hepatitis, Recurrent ... OMIM:209920
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Sepsis, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, BCG... OMIM:602450
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Recurrent infections OMIM:615285
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Severe infection, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circu... OMIM:304790
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, D... ORPHA:276
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Eosinophilic infiltration of the esophagus, ... OMIM:618213
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Decreased circulating IgG level, Fulminant... OMIM:308240
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Adult Idiopathic Neutropenia
Recurrent fungal infections, Recurrent bacterial infections, Helicobacter pylori infection, Incre... ORPHA:2688
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Aspergillosis
Keratitis, Unusual CNS infection, Osteomyelitis, Invasive pulmonary aspergillosis, Sinusitis, Men... ORPHA:1163
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Recurrent sin... OMIM:616740
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... OMIM:616576
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Recurrent infections, Increased circulati... ORPHA:2314
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abse... OMIM:615559
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Sepsis, Eczema, Decreased prealbumin level, Pneumonia, Ecze... ORPHA:37042
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Recurrent urinary tract infections, Increased circulating IgG... OMIM:618495
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... OMIM:615207
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Immunodeficiency 96
Decreased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... OMIM:619774
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:301000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Atopic de... ORPHA:2902
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... ORPHA:90280
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Skin rash... OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis, Recurrent infections, Recur... OMIM:614470
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:616005
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Inflammation of the large intestine, Decreased circulating antibody level, ... OMIM:618108
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Pancreatitis, Complement deficiency, Decre... ORPHA:449395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Sepsis, Decrea... OMIM:616100
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulat... OMIM:601495
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli... ORPHA:3261
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Complement deficiency, Increased circulating I... ORPHA:449432
Immunodeficiency 27A
Increased circulating IgG level, Increased inflammatory response, Increased circulating IgM level... OMIM:209950
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Brain abscess, Men... ORPHA:3392
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respiratory tract inf... OMIM:600802
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph... ORPHA:329918
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Lead Poisoning
Increased circulating IgE level, Tubulointerstitial nephritis, Skin rash, Abnormality of humoral ... ORPHA:330015
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Mirage Syndrome
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Caffey Disease
Increased circulating antibody level ORPHA:1310
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Meningitis, Increased circulating IgM le... ORPHA:448237
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Reduced delayed hypersens... OMIM:242700
Trichinellosis
Meningitis, Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Pustule, ... OMIM:615934
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Elevated circulating C-reactive protein concentration, Pancrea... ORPHA:449563
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col... ORPHA:555905
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Skin rash, Myositis, Arthritis, Recurrent infect... OMIM:617591
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i... ORPHA:723
Adult-Onset Nemaline Myopathy
Mildly elevated creatine kinase, Paraproteinemia ORPHA:171442
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617388
Prolidase Deficiency
Increased circulating antibody level, Eczema, Recurrent pneumonia, Recurrent infections, Crusting... OMIM:170100
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Fulminant hepatitis, Sclerosing cholangiti... ORPHA:2137
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis OMIM:615415
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, ... ORPHA:699
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Increased alpha-globulin, Recurrent lower ... ORPHA:86816
Hyper-Igd Syndrome
Increased circulating IgA level, Chronic oral candidiasis, Skin rash, Increased circulating IgD l... OMIM:260920
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Skin rash... OMIM:617099
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Nephritis, Increased circulating IgG level, Decreased lymphocyte... OMIM:603909
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Pneumonia, Bronchiec... OMIM:242860
Leishmaniasis
Increased circulating antibody level, Rhinitis, Hypoalbuminemia ORPHA:507
Boutonneuse Fever
Increased circulating IgM level, Maculopapular exanthema, Increased circulating IgG level, Skin rash ORPHA:83313
Subacute Inflammatory Demyelinating Polyneuropathy
Severe infection, Increased circulating IgG level ORPHA:206594
Ebola Hemorrhagic Fever
Increased circulating antibody level, Maculopapular exanthema, Sepsis, Acute pancreatitis, Hepatitis ORPHA:319218
Angiostrongyliasis
Unusual CNS infection, Increased circulating IgA level, Increased circulating IgG level, Increase... ORPHA:74
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Complement deficiency, Monoclonal elevation of circulating IgA, Membr... ORPHA:91139
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased circulating IgA level, Colitis, Decreased... ORPHA:2442
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... OMIM:269200
Q Fever
Unusual infection, Increased circulating antibody level, Osteomyelitis, Cryoglobulinemia, Maculop... ORPHA:781
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis ORPHA:343
Lassa Fever
Sepsis, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Primary Biliary Cholangitis
Onychomycosis, Recurrent fungal infections, Increased circulating IgA level, Hepatitis, Hypoalbum... ORPHA:186
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Nephritis, Sepsis, Recurrent pneumonia, Hypoalbuminemia, I... OMIM:617303
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Recurrent infections OMIM:616395
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227990
Encephalitis Lethargica
Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Mevalonic Aciduria
Elevated circulating C-reactive protein concentration, Skin rash, Increased circulating IgD level... OMIM:610377
Cystic Echinococcosis
Unusual infection, Invasive parasitic infection, Membranous nephropathy, Increased circulating an... ORPHA:400
Rift Valley Fever
Skin rash, Increased circulating IgG level, Severe viral infection, Hepatitis, Uveitis, Increased... ORPHA:319251
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anemia, Non-caseating epithelioid ce... ORPHA:227982
Right Atrial Isomerism
Polysplenia, Abdominal situs ambiguus, Asplenia OMIM:208530
Coccidioidomycosis
Unusual CNS infection, Osteomyelitis, Pancreatitis, Folliculitis, Panniculitis, Skin rash, Invasi... ORPHA:228123
Primary Sjögren Syndrome
Increased circulating antibody level, Chronic active hepatitis, Optic neuritis, Lymphocytic inter... ORPHA:289390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:562639
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Brucellosis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Orchitis, Arteritis, Endoca... ORPHA:1304
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Pancreatitis, Nephritis, Comple... ORPHA:449427
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Chronic active hepatitis, Asplenia OMIM:240300
Viss Syndrome
Chronic gastritis, Decreased circulating IgA level, Eczema, Atopic dermatitis, Increased circulat... OMIM:619472
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Polysplenia, Asplenia OMIM:164280
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Skin rash, At... OMIM:615846
Tick-Borne Encephalitis
Unusual CNS infection, Elevated circulating C-reactive protein concentration, Myelitis, Increased... ORPHA:297
Scleromyxedema
Elevated circulating creatine kinase concentration, Paraproteinemia ORPHA:167635
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent gastroenteritis, Decreased circulating IgG level, Sepsis, Hypoalbuminemia, Increased ci... ORPHA:505248
Multiple Myeloma
Increased circulating IgA level, Hyperproteinemia, Decreased circulating antibody level, Increase... ORPHA:29073
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Asplenia, Biliary tract abnormality OMIM:156810
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Nephritis, Skin rash, Osteo... ORPHA:2298
Gaucher Disease Type 1
Increased circulating antibody level, Osteoarthritis ORPHA:77259
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated alpha-fetoprotein, Increased circulating antibody level, Elevated circulating creatine k... OMIM:606002
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis, Thyroiditis ORPHA:64744
Japanese Encephalitis
Increased circulating antibody level, Meningitis, Infectious encephalitis, Increased circulating ... ORPHA:79139
Al Amyloidosis
Increased circulating antibody level, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Cysticercosis
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis ORPHA:1560
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Myositis, Increased circulating IgG4 level, Tubulointerstitial n... ORPHA:79078
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased circulating antibody level, Pancreatitis,... ORPHA:470
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Alveolar Echinococcosis
Increased circulating antibody level, Cutaneous abscess, Cholangitis ORPHA:284
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Inflammation of the large intestine, Arthrit... OMIM:181000
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Severe infection, Maculo... ORPHA:99826
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Gaucher Disease Type 3
Increased circulating antibody level, Recurrent respiratory infections ORPHA:77261
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Meckel Syndrome
Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Cystic liver disease, Pancrea... ORPHA:564
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Panuveitis, Elevated circulating C-reactive protein concent... ORPHA:91500
Meckel Syndrome, Type 1
Splenomegaly, Accessory spleen, Malformation of the hepatic ductal plate, Bile duct proliferation... OMIM:249000
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Opportunistic infection, Elevated c... ORPHA:99829
Primary Sclerosing Cholangitis
Pancreatitis, Polyclonal elevation of IgM, Hepatitis, Uveitis, Hypoalbuminemia, Ulcerative coliti... ORPHA:171
Crimean-Congo Hemorrhagic Fever
Orchitis, Conjunctivitis, Elevated circulating creatine kinase concentration, Increased circulati... ORPHA:99827
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Abdominal situs inversus, Polysplenia, Asplenia OMIM:306955
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia OMIM:265380
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus OMIM:270100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Asplenia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia ORPHA:261552
Amyloidosis, Primary Localized Cutaneous, 2
OMIM:613955

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 Il31ra

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 Il31ra.

No publications found that use IMPC mice or data for Il31ra.

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MGI Allele Allele Type Produced
Il31ratm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Il31ratm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il31ratm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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