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Gene: Pvrig MGI:5596028

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Gene Summary

Name:
poliovirus receptor related immunoglobulin domain containing
Synonyms:
Gm36869

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Reticular Dysgenesis
Lack of T cell function, Impaired T cell function OMIM:267500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Gombo Syndrome
Microphthalmia OMIM:233270
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Nanophthalmos 4
Microphthalmia OMIM:615972
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
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
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia 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
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgA, Decreased circulating total IgM,... OMIM:615615
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Congenital Toxoplasmosis
Microphthalmia, Lymphadenopathy ORPHA:858
Mmep Syndrome
Microphthalmia ORPHA:3434
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607594
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k... OMIM:619374
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:601859
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:619774
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly OMIM:615085
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Congenital Rubella Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Splenomegaly ORPHA:290
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Pierpont Syndrome
Microphthalmia ORPHA:487825
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Gracile Bone Dysplasia
Microphthalmia, Hypoplastic spleen, Aniridia, Asplenia OMIM:602361
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Pierpont Syndrome
Microphthalmia OMIM:602342
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Microphthalmia OMIM:301108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Temtamy Syndrome
Microphthalmia ORPHA:1777
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Matthew-Wood Syndrome
Microphthalmia, Abnormal spleen morphology, Anophthalmia ORPHA:2470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Lissencephaly 8
Microphthalmia OMIM:617255
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
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
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... OMIM:600802
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Congenital Fibrinogen Deficiency
Splenic rupture, Microphthalmia ORPHA:335
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... OMIM:603909
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Papa Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Microphthalmia OMIM:617244
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia OMIM:613153
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly, Hypoplasia of the iris ORPHA:169090
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Immunodeficiency 10
Lymphadenopathy, Splenomegaly, Hypoplasia of the iris OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased circulating antibody level, Lack of T cell function, Decreased lymphocyte proliferation... ORPHA:572
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Neurooculocardiogenitourinary Syndrome
Microphthalmia OMIM:618652
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Microphthalmia, Optic nerve hypoplasia OMIM:609053
Seckel Syndrome 2
Microphthalmia OMIM:606744
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia ORPHA:3191
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function OMIM:614576
Joubert Syndrome 37
Microphthalmia OMIM:619185
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Monosomy 18P
Microphthalmia ORPHA:1598
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Temtamy Syndrome
Microphthalmia OMIM:218340
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia OMIM:618494
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Orotic Aciduria
Impaired T cell function OMIM:258900
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Rodrigues Blindness
Microphthalmia OMIM:268320
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Moebius Syndrome
Microphthalmia OMIM:157900
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Hereditary Orotic Aciduria
Impaired T cell function ORPHA:30
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:457077
Fanconi Anemia, Complementation Group S
Microphthalmia OMIM:617883
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation ORPHA:66628
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity OMIM:242700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation ORPHA:179494
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia ORPHA:404440
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Microphthalmia/Coloboma 12
Microphthalmia, Optic nerve aplasia OMIM:120200
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... OMIM:618213
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos ORPHA:369891
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function ORPHA:1830
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function OMIM:201100
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia, Accessory spleen OMIM:243605
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Marden-Walker Syndrome
Microphthalmia OMIM:248700
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Meckel Syndrome, Type 4
Microphthalmia OMIM:611134
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly, Macular hypoplasia OMIM:214500
Joubert Syndrome 14
Microphthalmia OMIM:614424
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Mosaic Trisomy 9
Microphthalmia, Asplenia ORPHA:99776
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia OMIM:616449
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Microphthalmia OMIM:603467
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia ORPHA:3301
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Ritscher-Schinzel Syndrome 3
Microphthalmia OMIM:619135
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Martsolf Syndrome 1
Microphthalmia OMIM:212720
Immunodeficiency 58
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... OMIM:618131
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
Micro Syndrome
Microphthalmia ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Hypoplasia of the iris OMIM:613001
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia ORPHA:2728
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia OMIM:601186
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Adams-Oliver Syndrome
Microphthalmia ORPHA:974
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia OMIM:619148
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Fraser Syndrome 2
Microphthalmia, Hypoplasia of the thymus OMIM:617666
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... ORPHA:50918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
T-Cell Immunodeficiency With Thymic Aplasia
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen ORPHA:83471
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... OMIM:301000
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Meckel Syndrome
Microphthalmia, Anophthalmia, Accessory spleen, Asplenia, Aplasia/Hypoplasia of the iris ORPHA:564
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Microphthalmia OMIM:227645
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Neuroblastoma
Lymphadenopathy ORPHA:635
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Frontorhiny
Microphthalmia ORPHA:391474
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Cohen Syndrome
Microphthalmia ORPHA:193
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Mosaic Trisomy 1
Microphthalmia ORPHA:1692
Joubert Syndrome 2
Microphthalmia OMIM:608091
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen OMIM:619418
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia ORPHA:464738
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased circula... OMIM:242840
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris OMIM:251300
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Cherubism
Submandibular lymph node enlargement OMIM:118400
Pseudotrisomy 13 Syndrome
Microphthalmia OMIM:264480
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia OMIM:614083
Fryns Syndrome
Microphthalmia ORPHA:2059
Phace Association
Optic nerve hypoplasia, Microphthalmia OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Papillorenal Syndrome
Microphthalmia OMIM:120330
Fanconi Anemia, Complementation Group N
Microphthalmia OMIM:610832
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris ORPHA:2092
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Meckel Syndrome 14
Microphthalmia OMIM:619879
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
2Q31.1 Microdeletion Syndrome
Microphthalmia ORPHA:251014
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h... OMIM:609049
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Accessory spleen OMIM:620005
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Microphthalmia OMIM:227646
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615688
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
1Q21.1 Microdeletion Syndrome
Microphthalmia ORPHA:250989
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Cockayne Syndrome B
Microphthalmia, Splenomegaly, Hypoplasia of the iris OMIM:133540
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of the thymus ORPHA:861
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos ORPHA:2839
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris OMIM:223370
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Cousin Syndrome
Microphthalmia OMIM:260660
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Atelis Syndrome 2
Microphthalmia OMIM:620185
Incontinentia Pigmenti
Microphthalmia ORPHA:464
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Cockayne Syndrome Type 3
Microphthalmia, Splenomegaly ORPHA:90324
Trisomy 18
Microphthalmia ORPHA:3380
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Incontinentia Pigmenti
Microphthalmia, Hypoplasia of the fovea OMIM:308300
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos OMIM:618874
Isolated Arrhinia
Microphthalmia ORPHA:1134
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia OMIM:147791
Cat Eye Syndrome
Microphthalmia OMIM:115470
Tetraamelia Syndrome 1
Microphthalmia, Asplenia OMIM:273395
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Meckel Syndrome, Type 1
Asplenia, Microphthalmia, Splenomegaly, Accessory spleen OMIM:249000
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Pallister-Hall Syndrome
Microphthalmia OMIM:146510
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Microphthalmia, Hypoplasia of the thymus, Splenomegaly ORPHA:567
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Monosomy 9Q22.3
Microphthalmia ORPHA:77301
Fryns Syndrome
Microphthalmia, Polysplenia OMIM:229850
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:508498
Basal Cell Nevus Syndrome 1
Microphthalmia OMIM:109400
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Histiocytoid Cardiomyopathy
Microphthalmia, Congenital aphakia ORPHA:137675
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Increased circulating antibody level OMIM:181000
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Aplasia of the thymus OMIM:620186
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Cockayne Syndrome
Microphthalmia, Splenomegaly ORPHA:191
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia ORPHA:1052
Degcags Syndrome
Microphthalmia, Abnormal spleen morphology, Hepatosplenomegaly OMIM:619488
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Bartsocas-Papas Syndrome 1
Microphthalmia OMIM:263650
Steinfeld Syndrome
Microphthalmia OMIM:184705
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia OMIM:616975
Trichothiodystrophy
Bilateral microphthalmos ORPHA:33364
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia OMIM:617925
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Aicardi Syndrome
Microphthalmia ORPHA:50
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia ORPHA:2166
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Traboulsi Syndrome
Microphthalmia OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia OMIM:609945
Phace Syndrome
Optic nerve hypoplasia, Microphthalmia, Lens coloboma ORPHA:42775
Fanconi Anemia
Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:84
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia OMIM:309801
Aicardi Syndrome
Microphthalmia OMIM:304050
Monosomy 9P
Microphthalmia ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Mend Syndrome
Microphthalmia ORPHA:401973
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Myhre Syndrome
Microphthalmia OMIM:139210
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:468631
Roberts Syndrome
Microphthalmia ORPHA:3103
Microphthalmia, Syndromic 2
Phthisis bulbi, Microphthalmia, Anophthalmia OMIM:300166
Brucellosis
Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia ORPHA:3186
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Hydrolethalus Syndrome 1
Microphthalmia, Accessory spleen OMIM:236680
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal thymus morphology, Anophthalmia OMIM:219000
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Monosomy 13Q14
Microphthalmia ORPHA:1587
Fontaine Progeroid Syndrome
Microphthalmia OMIM:612289
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Yunis-Varon Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Charge Syndrome
Aplasia/Hypoplasia of the thymus, Microphthalmia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Renpenning Syndrome 1
Microphthalmia OMIM:309500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Chromosome 13Q14 Deletion Syndrome
Microphthalmia OMIM:613884
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly ORPHA:99827
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Neuroocular Syndrome
Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Ectopic thymus tissue OMIM:113620
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Adams-Oliver Syndrome 1
Microphthalmia OMIM:100300
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
Witteveen-Kolk Syndrome
Microphthalmia OMIM:613406
Neu-Laxova Syndrome 1
Microphthalmia OMIM:256520
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos ORPHA:93325
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385
Lowe Oculocerebrorenal Syndrome
Microphthalmia OMIM:309000
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649
Leptospirosis
Lymphadenopathy ORPHA:509
Digeorge Syndrome
Impaired T cell function OMIM:188400
Pallister-Hall Syndrome
Microphthalmia ORPHA:672
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
8Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Bilateral microphthalmos ORPHA:508488
Holoprosencephaly 1
Microphthalmia OMIM:236100
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Accessory spleen OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hypoplasia of the iris OMIM:175780
Treacher Collins Syndrome 1
Bilateral microphthalmos OMIM:154500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Microphthalmia OMIM:235730
Mowat-Wilson Syndrome
Microphthalmia, Asplenia ORPHA:2152
Holoprosencephaly 2
Microphthalmia OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Asplenia 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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