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Gene: Pvrig MGI:5596028

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Gene Summary

Name:
poliovirus receptor related immunoglobulin domain containing
Synonyms:
Gm36869

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Pvrigem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Pvrigem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pvrigem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Pvrigem1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Human diseases caused by Pvrig mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency 18
Defective T cell proliferation OMIM:615615
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... OMIM:615897
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Gombo Syndrome
Microphthalmia OMIM:233270
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Mmep Syndrome
Microphthalmia ORPHA:3434
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Decreased specific anti-polysaccharide antibody level, Decreased CD6... OMIM:300853
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... OMIM:619374
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Unilateral microphthalmos OMIM:615085
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia ORPHA:290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Pierpont Syndrome
Microphthalmia ORPHA:487825
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Gracile Bone Dysplasia
Asplenia, Microphthalmia, Hypoplastic spleen, Aniridia OMIM:602361
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Pierpont Syndrome
Microphthalmia OMIM:602342
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Lissencephaly 8
Microphthalmia OMIM:617255
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Abnormal spleen morphology ORPHA:2470
Temtamy Syndrome
Microphthalmia ORPHA:1777
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
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
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture ORPHA:335
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Papa Syndrome
Lymphadenopathy ORPHA:69126
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Fanconi Anemia, Complementation Group R
Microphthalmia, Bone marrow hypocellularity OMIM:617244
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy ORPHA:169090
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Seckel Syndrome 2
Microphthalmia OMIM:606744
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:85284
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... ORPHA:572
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia, Bone marrow hypocellularity OMIM:609053
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Joubert Syndrome 37
Microphthalmia OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
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
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Orotic Aciduria
Impaired T cell function OMIM:258900
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Moebius Syndrome
Microphthalmia OMIM:157900
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Legionnaires Disease
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Impaired T cell function, Abnormal lymphocyte physiology ORPHA:1830
Stromme Syndrome
Accessory spleen, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:610377
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Chediak-Higashi Syndrome
Splenomegaly, Macular hypoplasia, Lymphadenopathy OMIM:214500
Joubert Syndrome 14
Microphthalmia OMIM:614424
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Mosaic Trisomy 9
Asplenia, Microphthalmia ORPHA:99776
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Fanconi Anemia, Complementation Group F
Microphthalmia, Bone marrow hypocellularity OMIM:603467
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Immunodeficiency 58
Decreased specific antibody response to vaccination, Decreased T cell activation, Decreased circu... OMIM:618131
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia OMIM:613001
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Wiskott-Aldrich Syndrome
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... OMIM:301000
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Meckel Syndrome
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Fanconi Anemia, Complementation Group C
Microphthalmia, Bone marrow hypocellularity OMIM:227645
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Cohen Syndrome
Microphthalmia ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Joubert Syndrome 2
Microphthalmia OMIM:608091
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Vici Syndrome
Decreased circulating IgG2 level, Cutaneous anergy, Decreased circulating IgG level, Decreased T ... OMIM:242840
Cherubism
Submandibular lymph node enlargement OMIM:118400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Fanconi Anemia, Complementation Group L
Microphthalmia, Bone marrow hypocellularity OMIM:614083
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Fryns Syndrome
Microphthalmia ORPHA:2059
Papillorenal Syndrome
Microphthalmia OMIM:120330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Microphthalmia, Optic nerve hypoplasia OMIM:236670
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Meckel Syndrome 14
Microphthalmia OMIM:619879
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Fanconi Anemia, Complementation Group D2
Microphthalmia, Bone marrow hypocellularity OMIM:227646
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Microphthalmia OMIM:620005
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615688
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of the thymus ORPHA:861
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Tetraamelia Syndrome 1
Asplenia, Microphthalmia OMIM:273395
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Cockayne Syndrome B
Hypoplasia of the iris, Splenomegaly, Microphthalmia OMIM:133540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Cousin Syndrome
Microphthalmia OMIM:260660
Atelis Syndrome 2
Microphthalmia OMIM:620185
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Trisomy 18
Microphthalmia ORPHA:3380
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Isolated Arrhinia
Microphthalmia ORPHA:1134
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Meckel Syndrome, Type 1
Asplenia, Splenomegaly, Microphthalmia, Accessory spleen OMIM:249000
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
Cat Eye Syndrome
Microphthalmia OMIM:115470
22Q11.2 Deletion Syndrome
Microphthalmia, Splenomegaly, Hypoplasia of the thymus, Abnormality of the tonsils ORPHA:567
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Fryns Syndrome
Microphthalmia, Polysplenia OMIM:229850
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia ORPHA:508498
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Aplasia of the thymus OMIM:620186
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Steinfeld Syndrome
Microphthalmia OMIM:184705
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Cockayne Syndrome
Microphthalmia, Splenomegaly ORPHA:191
Degcags Syndrome
Microphthalmia, Abnormal spleen morphology, Hepatosplenomegaly OMIM:619488
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Aicardi Syndrome
Microphthalmia ORPHA:50
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Fanconi Anemia
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:84
Aicardi Syndrome
Microphthalmia OMIM:304050
Monosomy 9P
Microphthalmia ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Mend Syndrome
Microphthalmia ORPHA:401973
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Myhre Syndrome
Microphthalmia OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Roberts Syndrome
Microphthalmia ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy ORPHA:1304
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Microphthalmia, Syndromic 2
Microphthalmia, Phthisis bulbi, Anophthalmia OMIM:300166
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Fraser Syndrome 1
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos OMIM:219000
Hydrolethalus Syndrome 1
Accessory spleen, Microphthalmia OMIM:236680
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Monosomy 13Q14
Microphthalmia ORPHA:1587
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:3472
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Charge Syndrome
Microphthalmia, Anophthalmia, Unilateral microphthalmos, Aplasia/Hypoplasia of the thymus OMIM:214800
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy ORPHA:99827
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Branchiooculofacial Syndrome
Microphthalmia, Ectopic thymus tissue, Anophthalmia OMIM:113620
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Abnormal lymph node morphology ORPHA:99889
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:3385
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:649
Leptospirosis
Lymphadenopathy ORPHA:509
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Holoprosencephaly 1
Microphthalmia OMIM:236100
Digeorge Syndrome
Impaired T cell function OMIM:188400
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:508488
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Microphthalmia OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Microphthalmia ORPHA:261537
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome
Asplenia, Microphthalmia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Microphthalmia ORPHA:261552
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Pvrig

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 Pvrig.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pvrigem1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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