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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 (423 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 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
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 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM	OMIM:236000
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Lymphoma, Leukemia, Polyclonal elevation of IgM	OMIM:153600
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	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	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 49	Posterior cortical cataract	OMIM:619593
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Lymphoma, Multiple myeloma, Monoclonal immunoglobulin M proteinemia	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	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	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	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Defective T cell proliferation, Re...	OMIM:615897
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
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
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	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, Increased circulating IgM level, Facial papilloma	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca...	OMIM:615513
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	OMIM:610163
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency 64 With Lymphoproliferation	B-cell lymphoma, Increased circulating IgA level, Increased circulating IgG level, Increased circ...	OMIM:618534
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Galactosemia Iv	Cataract	OMIM:618881
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas...	OMIM:614699
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:619707
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Reduced antigen-specific T cell...	OMIM:617241
Retinitis Pigmentosa 86	Cortical cataract	OMIM:618613
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c...	OMIM:617765
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:613502
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le...	ORPHA:98813
Cataract 47	Microcornea, Cataract	OMIM:612018
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H...	OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Lymphoma, Decreased circulating antib...	OMIM:308240
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk...	OMIM:618944
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:613500
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Cerulean cataract	OMIM:616732
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Activated Pi3K-Delta Syndrome	Increased circulating IgM level, Lymphoma, Decreased circulating antibody level	ORPHA:397596
Immunodeficiency 62	Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,...	OMIM:618459
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Schnitzler Syndrome	Increased circulating IgM level, Lymphoma	ORPHA:37748
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Severe Combined Immunodeficiency, X-Linked	Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea...	OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c...	OMIM:612692
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Whim Syndrome 1	Decreased circulating IgG level, Verrucae, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 105	B-cell lymphoma, Decreased circulating antibody level, Decreased circulating total IgM, Decreased...	OMIM:619924
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Chronic lymphatic leukemia, Increased circulating IgM level, Decreased circulati...	OMIM:616005
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Agammaglobulinemia, Decreased circulating total IgM, Decreased ci...	OMIM:619824
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Schwannomatosis, Vestibular	Juvenile posterior subcapsular lenticular opacities, Cortical cataract	OMIM:101000
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Immunodeficiency 15B	Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat...	OMIM:615592
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency, Common Variable, 2	Impaired T cell function, Lymphoma, Neoplasm, Decreased circulating IgG level, Partial absence of...	OMIM:240500
Immunodeficiency 109 With Lymphoproliferation	Decreased lymphocyte proliferation in response to anti-CD3, Hodgkin lymphoma, Decreased circulati...	OMIM:620282
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level	OMIM:615767
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia	OMIM:202700
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Kimura Disease	Increased circulating IgE level	ORPHA:482
Adult Idiopathic Neutropenia	Increased circulating IgM level	ORPHA:2688
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoproliferative disorder, Lymphoma, Increased circulating antibody level, Decreased lymphocyt...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgG ...	OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:603909
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level	OMIM:178500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level	OMIM:618982
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, B-cell lymphoma, Paraprotei...	ORPHA:91139
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract	OMIM:611131
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre...	OMIM:607594
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract	OMIM:613581
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Knobloch Syndrome 1	Band keratopathy, Developmental cataract, Iris transillumination defect, Lens subluxation, Persis...	OMIM:267750
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency 96	Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract	OMIM:617547
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Zika Virus Disease	Increased circulating IgM level	ORPHA:448237
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
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 IgE, Decr...	OMIM:618394
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Increased circulating IgA level	OMIM:617099
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level...	OMIM:615816
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma of the vulva, Increased circulating IgE level, Verrucae, Squamous cell ca...	ORPHA:217390
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Cortical cataract	ORPHA:637
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level	OMIM:619705
Lassa Fever	Increased circulating IgM level	ORPHA:99824
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Zonular cataract	OMIM:222765
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level	OMIM:212050
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Multiple myeloma	ORPHA:48377
Galactokinase Deficiency	Nuclear cataract, Cataract	ORPHA:79237
Immunodeficiency 46	Decreased circulating antibody level	OMIM:616740
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Vitreoretinochoroidopathy	Microcornea, Pulverulent cataract, Developmental cataract	OMIM:193220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function	ORPHA:277
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM...	OMIM:243700
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level	OMIM:618048
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level, Myelodysplasia	ORPHA:48104
Knobloch Syndrome 2	Anterior cortical cataract	OMIM:618458
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level...	OMIM:619752
Autoimmune Lymphoproliferative Syndrome, Type Iii	Lymphoproliferative disorder, Reduced natural killer cell activity, Absent isohemagglutinin level...	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 total IgA, Decreased circulating IgG level, Increased circulating antibody ...	ORPHA:169160
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level	OMIM:301045
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Mucopolysaccharidosis-Plus Syndrome	Increased circulating IgM level, Bone marrow hypocellularity	OMIM:617303
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
3-Methylglutaconic Aciduria, Type Viib	Cataract, Zonular cataract	OMIM:616271
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Decreased circulating antibody level	OMIM:613101
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the s...	OMIM:620040
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level	OMIM:619767
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Igg4-Related Aortitis	Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc...	ORPHA:449400
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Nuclear cataract	ORPHA:2848
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:618116
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level	OMIM:618523
Lymphoproliferative Syndrome 2	Lymphoproliferative disorder, Lymphoma, Hodgkin lymphoma, Decreased circulating antibody level, D...	OMIM:615122
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T...	ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level...	ORPHA:169154
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphoproliferative disorder, Abnormal immunoglobulin level, Lymphoma, Increased circulating IgG ...	ORPHA:276
Tempi Syndrome	Increased circulating IgG level, Hemangioma	ORPHA:284227
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr...	OMIM:615758
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Verrucae, Decreased circulating IgA level	ORPHA:275
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphoma, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circul...	ORPHA:436159
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618108
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract	OMIM:302350
Primary Biliary Cholangitis	Increased circulating IgM level, Increased circulating IgA level	ORPHA:186
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level	ORPHA:3162
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Thymoma	Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Neoplasm of head and neck, Dec...	ORPHA:99867
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level	ORPHA:1116
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level	ORPHA:562639
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level	OMIM:147060
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
Immunodeficiency 92	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level...	OMIM:619652
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level	OMIM:616576
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Primary Intestinal Lymphangiectasia	Disseminated cutaneous warts, Decreased circulating antibody level, Decreased circulating total I...	ORPHA:90362
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract	ORPHA:168577
Lymphoproliferative Syndrome 1	Lymphoproliferative disorder, B-cell lymphoma, Hodgkin lymphoma, Decreased circulating antibody l...	OMIM:613011
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Increased circulating IgM level, Decreased circulating IgG level, Bone marrow hypocellularity	ORPHA:505248
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Mevalonic Aciduria	Nuclear cataract, Cataract	OMIM:610377
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l...	ORPHA:297
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Laryngeal papilloma, Increased circulating IgA level	OMIM:617388
Pneumocystosis	Neoplasm, Increased circulating antibody level	ORPHA:723
Autoimmune Lymphoproliferative Syndrome	B-cell lymphoma, Increased circulating IgA level, Fibroadenoma of the breast, Increased circulati...	ORPHA:3261
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Nuclear cataract, Cataract	OMIM:608885
Lowe Oculocerebrorenal Syndrome	Dense posterior cortical cataract, Corneal scarring, Developmental cataract	OMIM:309000
Waldenström Macroglobulinemia	Cryoglobulinemia, Lymphoma, Leukemia, Monoclonal immunoglobulin M proteinemia	ORPHA:33226
Rothmund-Thomson Syndrome, Type 2	Microcornea, Cataract, Zonular cataract	OMIM:268400
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Leishmaniasis	Increased circulating antibody level	ORPHA:507
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, Lymphoma, Decreased circulating total IgM, Decreased specific antib...	OMIM:614700
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level	ORPHA:79078
Tularemia	Increased circulating antibody level	ORPHA:3392
Bloom Syndrome	Acute myeloid leukemia, Malignant genitourinary tract tumor, Myelodysplasia, Esophageal neoplasm,...	ORPHA:125
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
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	Absent specific antibody response, B-cell lymphoma, Increased circulating IgE level, Decreased ci...	OMIM:102700
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph...	ORPHA:35078
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Coccidioidomycosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:228123
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level	OMIM:256500
Craniolenticulosutural Dysplasia	Punctate cataract, Posterior Y-sutural cataract	OMIM:607812
Agammaglobulinemia, X-Linked	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula...	OMIM:300755
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract	OMIM:201470
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Trichothiodystrophy 3, Photosensitive	Neoplasm of the skin, Increased circulating IgA level	OMIM:616395
Cowden Syndrome 1	Fibroadenoma of the breast, Breast carcinoma, Decreased circulating antibody level, Hamartomatous...	OMIM:158350
Arthrogryposis And Ectodermal Dysplasia	Nuclear cataract	OMIM:601701
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant...	OMIM:600802
Bloom Syndrome	Lymphoma, Squamous cell carcinoma, Decreased circulating total IgM, Leukemia, Decreased circulati...	OMIM:210900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,...	ORPHA:221139
Selective Igm Deficiency	Non-Hodgkin lymphoma, Paraproteinemia, Decreased circulating total IgM, Thyroid carcinoma, Multip...	ORPHA:331235
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Decreased circulating antibody level	OMIM:601495
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased...	OMIM:606367
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, Non-Ho...	OMIM:208900
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
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Polyclonal elevation of IgM	ORPHA:171
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hodgkin lymphoma, Decreased circulating antibody level	OMIM:615952
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hemangioma, Decreased circulating IgA level	ORPHA:457485
Prolidase Deficiency	Increased circulating antibody level	OMIM:170100
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level	ORPHA:2902
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:612301
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Brucellosis	Increased circulating IgG level, Increased circulating IgM level	ORPHA:1304
Immunodeficiency 47	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:300972
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, B-cell lymphoma, Lymphoma, Decreased circulating antibody level...	ORPHA:90363
Igg4-Related Submandibular Gland Disease	Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve...	ORPHA:449432
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Aspergillosis	Increased circulating IgE level, Hematological neoplasm	ORPHA:1163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Panhypogammaglobulinemia	OMIM:602450
Scleromyxedema	Paraproteinemia, Multiple myeloma	ORPHA:167635
Autosomal Dominant Hyper-Ige Syndrome	Increased circulating IgE level, Lymphoma	ORPHA:2314
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Lymphoma, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pn...	ORPHA:183675
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:99827
Good Syndrome	Thymoma, Decreased circulating antibody level	ORPHA:169105
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc...	OMIM:618213
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level	OMIM:304790
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota...	ORPHA:508533
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Wiskott-Aldrich Syndrome	Lymphoproliferative disorder, Increased circulating IgA level, Reduced natural killer cell activi...	OMIM:301000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Nuclear cataract	ORPHA:1010
Yellow Fever	Increased circulating IgM level, Increased circulating interleukin 6 concentration	ORPHA:99829
Ebola Hemorrhagic Fever	Increased circulating antibody level	ORPHA:319218
Poems Syndrome	Hemangioma, Lymphoproliferative disorder, Increased circulating antibody level	ORPHA:2905
Pgm3-Cdg	Increased circulating IgA level, Increased circulating IgE level, Lymphoma, Increased circulating...	ORPHA:443811
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
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level	OMIM:617591
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract	ORPHA:50814
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Celiac Disease, Susceptibility To, 1	Lymphoma, Decreased circulating IgA level	OMIM:212750
Gaucher Disease Type 1	Increased circulating antibody level	ORPHA:77259
Schimke Immunoosseous Dysplasia	Abnormal immunoglobulin level, Decreased circulating antibody level	OMIM:242900
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Cystic Echinococcosis	Increased circulating antibody level	ORPHA:400
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Lymphoma, Decreased circulating antibody level	ORPHA:1572
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level	ORPHA:330015
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Increased circulating IgA level, Lymphom...	ORPHA:2298
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Igg4-Related Thyroid Disease	Neoplasm, Increased circulating IgG4 level	ORPHA:64744
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Dubowitz Syndrome	Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased circulating IgG level, Decreased...	OMIM:223370
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Nuclear pulverulent cataract	OMIM:612474
Al Amyloidosis	Increased circulating antibody level	ORPHA:85443
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
Q Fever	Cryoglobulinemia, Increased circulating antibody level	ORPHA:781
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, B-cell lymphoma, Decreased circulating total IgM, Decreased lymp...	OMIM:619381
Primary Sjögren Syndrome	Lymphoproliferative disorder, Lymphoma, Decreased circulating antibody level, Decreased circulati...	ORPHA:289390
Igg4-Related Ophthalmic Disease	Increased circulating IgG4 level, Lymphoma, Increased circulating IgE level, Neoplasm of the lung...	ORPHA:449563
Alveolar Echinococcosis	Increased circulating antibody level	ORPHA:284
Igg4-Related Kidney Disease	Increased circulating IgG4 level, Increased circulating IgE level, Lymphocytoma cutis, Increased ...	ORPHA:449395
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Trichinellosis	Increased circulating IgE level	ORPHA:863
Postinfectious Vasculitis	Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase...	ORPHA:48435
Gaucher Disease Type 3	Increased circulating antibody level	ORPHA:77261
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat...	OMIM:256040
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level	ORPHA:37042
Lysinuric Protein Intolerance	Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec...	ORPHA:470
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Neoplasm, Neuroblastoma, Hepatoblastoma, Nephroblastoma	ORPHA:373
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level	OMIM:615846
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
Gaucher Disease	Increased circulating antibody level	ORPHA:355
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating IgG level, Increased circulating antibody level	ORPHA:91500
Marburg Hemorrhagic Fever	Increased circulating antibody level	ORPHA:99826
Viss Syndrome	Exostosis of the external auditory canal, Increased circulating IgG level, Increased circulating ...	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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