Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Ro60, Y RNA binding protein
Synonyms:
A530054J02Rik,  Trove2,  Ssa2,  SS-A/Ro,  Ssa,  1810007I17Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ro60 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 Ro60 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
C1Q Deficiency
Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Autoimmunity, Decreased s... OMIM:613652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces... OMIM:617006
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Nephrotic syndrome, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Complement Component 4A Deficiency
Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu... OMIM:614380
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Decreased specific pneumococcal... OMIM:613496
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Decreased serum complement C8 OMIM:613790
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Increased circulating IgG lev... OMIM:610163
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen... ORPHA:329918
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thromboc... OMIM:619220
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity OMIM:216950
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:601859
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Nephrotic syndrome, Anticardiolipin IgG antibody positivity... OMIM:615559
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Arthritis, Pericar... OMIM:152700
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Autoimmune Lymphoproliferative Syndrome, Type Iia
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... OMIM:603909
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Anti-U1 ribonucleoprotein antibody pos... OMIM:619375
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level, Hematuria OMIM:314000
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthr... OMIM:616414
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity OMIM:609529
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Autoimmune Hepatitis
Increased circulating antibody level, Liver kidney microsome type 1 antibody positivity, Viral he... ORPHA:2137
Immunodeficiency 27A
Rheumatoid factor positive, Increased circulating IgG level, Increased inflammatory response, Inc... OMIM:209950
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Recurrent urinary tract infections, Increased circulating IgG... OMIM:618495
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Abnormality of humoral ... ORPHA:277
Simple Cryoglobulinemia
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Complement deficiency... ORPHA:91139
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating... OMIM:618048
Immunodeficiency 14A, Autosomal Dominant
Bronchiectasis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level,... OMIM:615513
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Circulating immune complexes, Anterior uveitis, Reversible renal failure, Uveitis, Gl... OMIM:607665
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:613913
Thymoma
Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Myositis, Aut... ORPHA:99867
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Arthritis, Hepatitis, Anti-glutamic acid... OMIM:304790
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Autoimmunity, Increased circula... OMIM:616005
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema... OMIM:608709
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Au... ORPHA:449400
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis OMIM:617609
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Smooth muscle antibody positivity, Sclerosing ... ORPHA:562639
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Idiopathic Pulmonary Hemosiderosis
Smooth muscle antibody positivity, Antineutrophil antibody positivity, Rheumatoid factor positive... ORPHA:99931
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced delayed hypersensitivity, Increased circulating IgM level, Reduced antigen-specif... OMIM:617241
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Autoimmune Lymphoproliferative Syndrome
Gastritis, Rheumatoid factor positive, Uveitis, Bone marrow hypocellularity, Increased circulatin... ORPHA:3261
Pauci-Immune Glomerulonephritis
Pancreatitis, Decreased glomerular filtration rate, Nephrotic range proteinuria, Arteritis, Macro... ORPHA:93126
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Complement deficiency, Decreased serum complement C4, L... ORPHA:449395
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:615577
Immunodeficiency 23
Eczema, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Increased circulati... OMIM:615816
Complement Factor I Deficiency
Decreased serum complement factor H, Decreased serum complement factor B, Decreased serum complem... OMIM:610984
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Systemic lupus erythematosus, Nephrotic syndrome, Deep dermal perivascular inflammatory ... ORPHA:49041
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis, Autoimmunity, Autoimmune th... OMIM:614470
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level, Keratoconjunctivitis sicca, Uve... OMIM:617388
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta... OMIM:618982
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type... ORPHA:37042
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Increase... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ... OMIM:616100
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Fulminant hepatitis, Reduced natural killer cell activity, Decre... OMIM:308240
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... ORPHA:859
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... OMIM:300400
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ... ORPHA:275
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... OMIM:301082
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... ORPHA:48435
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... OMIM:301006
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Sting-Associated Vasculopathy, Infantile-Onset
Antiphospholipid antibody positivity, Increased circulating IgA level, Pustule, Skin rash, Rheuma... OMIM:615934
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Schnitzler Syndrome
Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:613500
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... ORPHA:656
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Nephrotic range proteinuria, Abnormal lymphocyte physiology, Impaired T cell functi... ORPHA:1830
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... ORPHA:567548
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Cirrhosis, Familial
Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Primary Biliary Cholangitis
Increased circulating IgA level, Hepatitis, Autoimmunity, Increased circulating IgM level, Antinu... ORPHA:186
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Sneddon Syndrome
Antiphospholipid antibody positivity, Decreased circulating total IgM OMIM:182410
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Increased circulating IgG level, Renal insufficiency, Increas... ORPHA:83313
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... OMIM:300291
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... OMIM:618969
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Autoimmune ant... ORPHA:555905
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Antinuclear antibody positivity, Myositis, Keratoconjunctivitis ... ORPHA:79078
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Increased circulating ... ORPHA:2442
Galloway-Mowat Syndrome 7
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... OMIM:618348
Zika Virus Disease
Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Increased circu... ORPHA:448237
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Complement deficiency, Abnormality of the kidn... ORPHA:449432
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th... ORPHA:48104
Autoinflammatory-Pancytopenia Syndrome
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Proteinuria OMIM:619858
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... OMIM:619281
Actinic Prurigo
Glomerulonephritis, Cheilitis, Pyoderma OMIM:174770
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma... OMIM:243700
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... OMIM:104200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Sinusitis, Increased circulating IgM level, Pneumonia, Bronchiec... OMIM:242860
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Anti-thyroid peroxidase antibody positivity, Increased circulating IgG4 l... ORPHA:64744
Systemic Sclerosis
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... ORPHA:90291
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis OMIM:619428
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... OMIM:615767
Lysinuric Protein Intolerance
Increased circulating antibody level, Argininuria, Oroticaciduria, Pancreatitis, Decreased glomer... ORPHA:470
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media OMIM:312863
Brucellosis
Osteomyelitis, Intrarenal abscess, Orchitis, Arteritis, Rheumatoid factor positive, Increased cir... ORPHA:1304
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... OMIM:614376
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Nephritis, Renal tubular atrophy, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin... OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Maculopapular exanthema, Membranoproliferative glomerulonephritis, Renal insu... OMIM:619644
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Autoimmune thrombocytopenia, Stomatitis, Decreased circulating a... OMIM:613011
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusitis, Diffuse mesangi... OMIM:102700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Conjun... OMIM:614700
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM OMIM:615139
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:619802
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Increased circulating IgM level, Skin rash, Panniculitis OMIM:617099
Prolidase Deficiency
Increased circulating antibody level, Systemic lupus erythematosus, Eczema, Crusting erythematous... OMIM:170100
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Increased circulating IgA level, Decreased serum complement factor ... ORPHA:2298
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur... ORPHA:276
Immunodeficiency 96
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Bence Jones Proteinuria ORPHA:100024
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent skin infections, Decr... OMIM:619752
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Colonic eosinophilia, Membranous nephropathy OMIM:618999
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Lassa Fever
Oliguria, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Autoimmunity, Atopic dermatitis ORPHA:2902
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Decreased circulating IgG level, Antineutrophil antibody positivity, Bo... OMIM:301078
Q Fever
Increased circulating antibody level, Antiphospholipid antibody positivity, Osteomyelitis, Antica... ORPHA:781
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Recurrent urinary tr... ORPHA:36234
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... OMIM:619510
Primary Sjögren Syndrome
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Increased circula... ORPHA:289390
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Goodpasture Syndrome
Cylindruria, Macroscopic hematuria, Glomerular crescent formation, Proteinuria, Cytoplasmic antin... OMIM:233450
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Complement deficiency, Macroscopic hematuria, Focal segmental glomerulosc... ORPHA:567546
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis... OMIM:619705
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Cystic Echinococcosis
Increased circulating antibody level, Renal cyst, Membranous nephropathy ORPHA:400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:611926
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity, Urinary incontinence ORPHA:83600
Primary Sclerosing Cholangitis
Pancreatitis, Polyclonal elevation of IgM, Hepatitis, Uveitis, Autoimmunity, Renal insufficiency,... ORPHA:171
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Rift Valley Fever
Skin rash, Increased circulating IgG level, Hematuria, Hepatitis, Uveitis, Increased circulating ... ORPHA:319251
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Nephrotic syndrome, Decreased circulating IgG level, Heparan sulfate excretion in urine, Enlarged... ORPHA:505248
Lymphatic Filariasis
Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstruction, Abnormality of ... ORPHA:2035
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating IgE level OMIM:618523
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Cutaneo... OMIM:147060
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Coccidioidomycosis
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Abnormality of the kidney, Peritonitis, Inc... ORPHA:228123
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis... ORPHA:217390
Kimura Disease
Increased circulating IgE level ORPHA:482
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Chronic kidney disease, Decreased glomerular f... ORPHA:340
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney ORPHA:251004
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Tempi Syndrome
Abnormality of the kidney, Increased circulating IgG level ORPHA:284227
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morph... OMIM:137940
Agammaglobulinemia, X-Linked
Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py... OMIM:300755
Nail-Patella Syndrome
Nephrotic syndrome, Hematuria, Renal insufficiency, Proteinuria, Glomerulonephritis OMIM:161200
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Tularemia
Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Pneumonia, Cutaneo... ORPHA:3392
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Japanese Encephalitis
Infectious encephalitis, Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... ORPHA:2968
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Myelitis, Increased circula... ORPHA:297
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Abnormality of the kidney, Increased c... ORPHA:449563
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Nephropathy, Increased circulating IgG level... ORPHA:29073
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Caffey Disease
Increased circulating antibody level ORPHA:1310
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis ORPHA:90368
Netherton Syndrome
Aminoaciduria, Skin rash, Eczema, Decreased circulating antibody level, Ectopic kidney, Hydroneph... ORPHA:634
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Increased circulat... OMIM:301000
Secondary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating total IgM, Constrictive pericarditis, Decr... ORPHA:90363
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Methylmalonic aciduria, Decreas... OMIM:275350
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
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level... OMIM:600903
Cocaine Intoxication
Colitis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury, Proteinuria, Glomeruloneph... ORPHA:90068
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level OMIM:270300
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Netherton Syndrome
Erythroderma, Allergic rhinitis, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Crimean-Congo Hemorrhagic Fever
Orchitis, Conjunctivitis, Increased circulating IgG level, Hematuria, Myocarditis, Cholecystitis,... ORPHA:99827
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Eosinophilic infiltration of the esophagus, Pancolitis, Increased... OMIM:618213
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Panuveitis, Decreased glomerular filtration rate, Posterior uveitis,... ORPHA:91500
Immunodeficiency 43
Bronchiectasis, Decreased circulating IgG level OMIM:241600
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Aapoaiv Amyloidosis
Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, P... ORPHA:439232
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I... ORPHA:449427
Leishmaniasis
Increased circulating antibody level, Rhinitis ORPHA:507
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Waldenström Macroglobulinemia
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency ORPHA:33226
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Abnormality of the kidney, Hepatitis, Infectious encephaliti... ORPHA:1163
Yellow Fever
Increased circulating interleukin 6 concentration, Skin rash, Acute pancreatitis, Renal insuffici... ORPHA:99829
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Chronic kidney disease, Recurrent skin infections, Abnorma... ORPHA:79408
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Pneumocystosis
Increased circulating antibody level, Interstitial pneumonitis, Chronic oral candidiasis, Acute i... ORPHA:723
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Skin rash, Myositis, Arthritis, Conjunctivitis, ... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Decreased circula... ORPHA:420741
Lead Poisoning
Renal tubular dysfunction, Chronic kidney disease, Skin rash, Abnormality of humoral immunity, Tu... ORPHA:330015
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:620040
Hyper-Igd Syndrome
Chronic oral candidiasis, Increased circulating IgA level, Skin rash, Renal angiomyolipoma, Incre... OMIM:260920
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Chronic otitis media, Increased circulating IgE level ORPHA:2314
Bloom Syndrome
Decreased circulating IgA level, Cheilitis, Decreased circulating IgG level, Skin rash, Otitis me... ORPHA:125
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612301
Al Amyloidosis
Increased circulating antibody level, Nephrotic syndrome, Renal interstitial amyloid deposits, Ab... ORPHA:85443
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:79330
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Maculopapular exanthema, Hepatitis ORPHA:319218
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Otitis media, Pneumonia, Panhypogammaglobulinemia OMIM:602450
Congenital Disorder Of Glycosylation, Type Iiw
Recurrent otitis media, Membranoproliferative glomerulonephritis, Microscopic hematuria, Moderate... OMIM:619525
Immunodeficiency 47
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... OMIM:300972
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating IgA level, Congenital megaureter, Decreased circulating total IgM, Abnormal... ORPHA:369837
Gaucher Disease Type 1
Increased circulating antibody level, Osteoarthritis, Hematuria, Proteinuria ORPHA:77259
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Scleromyxedema
Abnormality of the kidney, Paraproteinemia ORPHA:167635
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Crohn's disease, Colitis, Gastritis, O... OMIM:619381
Mevalonic Aciduria
Increased circulating IgD level, Morbilliform rash, Elevated urine mevalonic acid, Skin rash OMIM:610377
Alveolar Echinococcosis
Abnormality of bladder morphology, Increased circulating antibody level, Renal cyst, Cholangitis,... ORPHA:284
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620005
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Nephrotic syndrome, Skin rash, Atopic dermatitis, Chilblain... OMIM:615846
Poems Syndrome
Increased circulating antibody level ORPHA:2905
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Gaucher Disease Type 3
Increased circulating antibody level, Hematuria, Proteinuria ORPHA:77261
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Inflammation of the large intestine, Arthrit... OMIM:181000
Cysticercosis
Increased circulating antibody level, Iridocyclitis, Infectious encephalitis ORPHA:1560
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Alström Syndrome
Dysuria, Chronic kidney disease, Pancreatitis, Otitis media, Micropenis, Recurrent urinary tract ... ORPHA:64
Viss Syndrome
Chronic gastritis, Decreased circulating IgA level, Eczema, Atopic dermatitis, Increased circulat... OMIM:619472
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory... ORPHA:83617
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Hypospadias, Hydroureter, Nephroblastoma, Ureteral duplication, Multicystic ... ORPHA:373
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Osteoarthritis, Hematuria, Hepatitis, Protei... ORPHA:355
Marburg Hemorrhagic Fever
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... ORPHA:99826

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 Ro60

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 Ro60.

No publications found that use IMPC mice or data for Ro60.

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MGI Allele Allele Type Produced
Ro60tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ro60tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ro60tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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