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Gene: Ggta1 MGI:95704

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glycoprotein galactosyltransferase alpha 1, 3

Synonyms:

Ggta-1, GALT, Gal, Ggta, glycoprotein alpha galactosyl transferase 1, alpha3GalT, alpha Gal

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Ggta1 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.

Human diseases associated with Ggta1 (0 diseases)
Human diseases predicted to be associated with Ggta1 (429 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ggta1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM	OMIM:236000
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma	OMIM:153600
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 49	Posterior cortical cataract	OMIM:619593
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma, Cryoglobulinemia	ORPHA:209004
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Trichomegaly	Cataract	OMIM:190330
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Facial papilloma, Increased circulating IgM level	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, B-cel...	OMIM:618534
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell...	OMIM:617241
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Refractory anemia with ring...	ORPHA:318
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Cataract 47	Cataract, Microcornea	OMIM:612018
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Partial absence of specific antibody response to tetanus vaccine, D...	OMIM:618261
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM	OMIM:613500
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Lymphoma, Decreased circulating antibody level, Dysgammaglobulin...	OMIM:308240
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Lymphoma, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Schnitzler Syndrome	Increased circulating IgM level, Lymphoma	ORPHA:37748
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating...	OMIM:618969
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c...	OMIM:300400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Immunodeficiency 18	Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ...	OMIM:615615
Uveal Melanoma	Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract	ORPHA:39044
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Lymphoma, Decreased circulating IgA le...	OMIM:240500
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Immunodeficiency 105	Decreased circulating IgG level, Decreased circulating IgA level, B-cell lymphoma, Decreased circ...	OMIM:619924
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Chronic lymphatic leukemia, B-c...	OMIM:616005
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Verrucae	OMIM:193670
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level	OMIM:178500
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Increased circulating antibody level	OMIM:202700
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Increased circulating antibody level, Leukemia, Lymphoproliferative disorder, Decreased...	OMIM:614470
Kimura Disease	Increased circulating IgE level	ORPHA:482
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo...	ORPHA:566
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level	OMIM:618982
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Acute lymphoblastic leukemia	OMIM:616873
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Increased circulating IgM level	OMIM:242860
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to po...	ORPHA:70593
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ...	ORPHA:74
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Knobloch Syndrome 1	Band keratopathy, Iris transillumination defect, Cortical cataract, Developmental cataract, Lens ...	OMIM:267750
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607594
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Immunodeficiency 102	Decreased circulating IgG level, Verrucae, Increased circulating interleukin 6 concentration, Dec...	OMIM:301082
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Immunodeficiency 23	Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:615816
Combined Immunodeficiency Due To Dock8 Deficiency	Verrucae, Increased circulating IgE level, Squamous cell carcinoma of the vulva, Squamous cell ca...	ORPHA:217390
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Increased circulating IgM level	OMIM:617099
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, B-cell lymphoma	OMIM:620532
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function, Acute myelomonocytic leukemia	ORPHA:2585
Immunodeficiency 52	Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l...	OMIM:617514
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract	ORPHA:637
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Kaposi's sarcoma, Increased cir...	OMIM:612783
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Increased hepatitis B virus antibody level	ORPHA:90003
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619510
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Galactokinase Deficiency	Cataract, Nuclear cataract	ORPHA:79237
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Subcorneal Pustular Dermatosis	Multiple myeloma, Increased circulating antibody level	ORPHA:48377
Vitreoretinochoroidopathy	Microcornea, Developmental cataract, Pulverulent cataract	OMIM:193220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function	ORPHA:277
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level	OMIM:618048
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ...	OMIM:615559
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:169160
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level, Myelodysplasia	OMIM:619767
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Increased circulating IgM level	OMIM:617303
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decre...	OMIM:620040
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Abnormal natural killer cell physiology	OMIM:613101
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Lymphoma, Hodgkin lymphoma, Lymphoprol...	OMIM:615122
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Thymoma	Neoplasm of head and neck, Neoplasm of the thyroid gland, Neoplasm, Abnormal lymphocyte physiolog...	ORPHA:99867
Tempi Syndrome	Increased circulating IgG level, Hemangioma	ORPHA:284227
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:331206
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615758
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Decreased circulating...	ORPHA:436159
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract	OMIM:302350
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612782
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level	OMIM:620603
Sézary Syndrome	Abnormal immunoglobulin level, Cutaneous T-cell lymphoma, Lymphoma, Neoplasm of the skin	ORPHA:3162
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Verrucae	ORPHA:275
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level	ORPHA:79139
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Decreased circulating IgA level, Disseminated cutaneous warts, D...	ORPHA:90362
Primary Biliary Cholangitis	Hepatocellular carcinoma, Increased circulating IgA level, Increased circulating IgM level	ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level	ORPHA:505248
Mevalonic Aciduria	Cataract, Nuclear cataract	OMIM:610377
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Increased circulating antibody level, Hodg...	ORPHA:3261
Pneumocystosis	Neoplasm, Increased circulating antibody level	ORPHA:723
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c...	ORPHA:297
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hodgkin lymphoma, B-cell lymphoma, Lymphoproliferative disorder,...	OMIM:613011
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract	OMIM:608885
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Laryngeal papilloma, Increased circulating IgA level	OMIM:617388
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Waldenström Macroglobulinemia	Leukemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Cryoglobulinemia	ORPHA:33226
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Decreased specific an...	OMIM:614700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Squamous cell carcinoma, Decrea...	OMIM:243700
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Zonular cataract	OMIM:268400
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Bloom Syndrome	Decreased circulating IgG level, Neoplasm of the skin, Lymphoma, Malignant genitourinary tract tu...	ORPHA:125
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level	ORPHA:79078
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Tularemia	Increased circulating antibody level	ORPHA:3392
Iga Pemphigus	Monoclonal elevation of circulating IgA, Increased circulating IgA level	ORPHA:555905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve...	OMIM:102700
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Neoplasm ...	ORPHA:171
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Punctate cataract	OMIM:607812
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Autoimmune Hepatitis	Increased circulating IgG level, Hepatocellular carcinoma, Increased circulating antibody level	ORPHA:2137
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hemangioma, Decreased circulating IgA level, Intestinal polyp	ORPHA:457485
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Trichothiodystrophy 3, Photosensitive	Neoplasm of the skin, Increased circulating IgA level	OMIM:616395
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Cowden Syndrome 1	Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ...	OMIM:158350
Bloom Syndrome	Decreased circulating IgG level, Leukemia, Lymphoma, Decreased circulating IgA level, Squamous ce...	OMIM:210900
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Decreased circulating antibody level, Panhypogammaglobulinemia	OMIM:601495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac...	OMIM:606367
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre...	ORPHA:221139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Abnormality of B cell physiology, Decreased lymphocyte proliferation in respons...	OMIM:600802
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level	OMIM:618165
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Decreased circulatin...	OMIM:208900
Aspergillosis	Increased circulating IgE level, Hematological neoplasm	ORPHA:1163
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphoma, Decreased circulating IgA level, B-cell lymphoma, Dec...	ORPHA:90363
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Immunodeficiency 47	Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t...	OMIM:300972
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Scleromyxedema	Paraproteinemia, Multiple myeloma	ORPHA:167635
Selective Igm Deficiency	Verrucae, Paraproteinemia, Stomach cancer, Thyroid carcinoma, Decreased specific antibody respons...	ORPHA:331235
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Lymphoma	ORPHA:2314
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Good Syndrome	Thymoma, Decreased circulating antibody level	ORPHA:169105
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,...	OMIM:618213
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphoma, Decrea...	ORPHA:183675
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Gaucher Disease	Polyclonal elevation of IgM, Increased circulating antibody level	ORPHA:355
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Capil...	ORPHA:508533
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ...	OMIM:301000
Pgm3-Cdg	Bone marrow hypocellularity, Lymphoma, Increased circulating IgE level, Increased circulating IgA...	ORPHA:443811
Yellow Fever	Increased circulating interleukin 6 concentration, Increased circulating IgM level	ORPHA:99829
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Hyper-Igd Syndrome	Renal angiomyolipoma, Increased circulating IgD level, Increased circulating IgA level	OMIM:260920
Poems Syndrome	Lymphoproliferative disorder, Hemangioma, Increased circulating antibody level	ORPHA:2905
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Decreased circulating antibody level, Lymphoma	ORPHA:1572
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Lymphoma	OMIM:212750
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Lead Poisoning	Increased circulating IgE level, Abnormality of humoral immunity	ORPHA:330015
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Gaucher Disease Type 1	Multiple myeloma, Increased circulating antibody level	ORPHA:77259
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Lymphoma, Hodgkin lymphoma, Increased ci...	ORPHA:2298
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Increased circulating IgA level	OMIM:620565
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Dubowitz Syndrome	Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Neuroblastoma, Acute ...	OMIM:223370
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620005
Monosomy 18Q	Astrocytoma, Decreased circulating IgA level	ORPHA:1600
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Primary Sjögren Syndrome	Lymphoma, Reduced circulating complement concentration, Decreased circulating antibody level, Inc...	ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Chole...	OMIM:619381
Autoinflammatory Disease, Systemic, With Vasculitis	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:620376
Igg4-Related Ophthalmic Disease	Lymphoma, Increased circulating IgE level, Increased circulating IgG4 level, Non-Hodgkin lymphoma...	ORPHA:449563
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Postinfectious Vasculitis	Abnormality of humoral immunity, Increased circulating IgA level, Cryoglobulinemia, Increased cir...	ORPHA:48435
Trichinellosis	Increased circulating IgE level	ORPHA:863
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Lysinuric Protein Intolerance	Reduced circulating complement concentration, Abnormality of humoral immunity, Decreased circulat...	ORPHA:470
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Neoplasm, Nephroblastoma, Hepatoblastoma, Neuroblastoma	ORPHA:373
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Increased circulating antibody level	OMIM:181000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472

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 Ggta1

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 Ggta1.

No publications found that use IMPC mice or data for Ggta1.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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