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Gene: Trak2 MGI:1918077

Gene Summary

Name:

trafficking protein, kinesin binding 2

Synonyms:

GRIF1, OIP98, Als2cr3, CALS-C, GRIF-1, 4733401O11Rik, 2900022D04Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased thigmotaxis	Trak2^em1(IMPC)Mbp	HOM	Early adult	7.30×10^-16
abnormal eye morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Trak2^em1(IMPC)Mbp	HOM	Early adult	8.70×10^-16
enlarged lymph nodes	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Trak2^em1(IMPC)Mbp	HOM	Early adult	2.15×10^-15
abnormal lymph node morphology	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Trak2^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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Human diseases caused by Trak2 mutations

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

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

Human diseases associated with Trak2 (0 diseases)
Human diseases predicted to be associated with Trak2 (629 diseases)

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

The table below shows human diseases predicted to be associated to Trak2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Kerion Celsi	Lymphadenopathy	ORPHA:499
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Hyperactivity	OMIM:274270
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Congenital Toxoplasmosis	Microphthalmia, Lymphadenopathy	ORPHA:858
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Immunodeficiency 27A	Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Mmep Syndrome	Microphthalmia	ORPHA:3434
Pleural Mesothelioma	Lymphadenopathy, Dysphagia	ORPHA:50251
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy	ORPHA:391
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Mu-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Rhabdoid Tumor	Irritability, Lymphadenopathy	ORPHA:69077
Immunodeficiency 52	Splenomegaly, Lymphadenopathy	OMIM:617514
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L...	OMIM:615559
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Immunodeficiency 64 With Lymphoproliferation	Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen...	OMIM:618534
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy	OMIM:603552
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
17Q12 Microduplication Syndrome	Microphthalmia, Self-injurious behavior	ORPHA:261272
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dysphagia	OMIM:308350
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Microphthalmia, Abnorma...	OMIM:618914
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Pierpont Syndrome	Microphthalmia	OMIM:602342
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Splenomegaly, Microphthalmia	ORPHA:290
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Myoclonic-Astatic Epilepsy	Microphthalmia, Hyperactivity, Abnormal emotion, Attention deficit hyperactivity disorder	ORPHA:1942
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Classic Mycosis Fungoides	Splenomegaly, Lymphadenopathy	ORPHA:2584
Immunodeficiency 10	Hypoplasia of the iris, Lymphadenopathy	OMIM:612783
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:152950
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Leishmaniasis	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:507
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Niemann-Pick Disease, Type A	Splenomegaly, Irritability, Lymphadenopathy	OMIM:257200
Schnitzler Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	ORPHA:397596
Nephroblastoma	Aniridia, Lymphadenopathy	ORPHA:654
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Unilateral microphthalmos	OMIM:615085
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Gracile Bone Dysplasia	Asplenia, Microphthalmia, Hypoplastic spleen, Aniridia	OMIM:602361
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Self-injurious behavior, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:494344
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Lissencephaly 8	Microphthalmia	OMIM:617255
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Aregenerative Anemia	Bone marrow hypocellularity, Emotional lability, Lymphadenopathy, Depression	ORPHA:101096
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Temtamy Syndrome	Microphthalmia, Self-mutilation	OMIM:218340
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Aggressive behavior, Bilateral microphthalmos, Agitation, Overfriend...	ORPHA:369891
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dysphagia	OMIM:612379
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:824
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Heme Oxygenase 1 Deficiency	Asplenia, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Lymphoproliferative Syndrome 2	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Follicular hyperplasia	OMIM:614470
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Roifman Syndrome	Splenomegaly, Lymphadenopathy	OMIM:616651
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:911
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia, Abnormal spleen morphology	ORPHA:2470
Aggressive Systemic Mastocytosis	Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:98850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Gamma-Heavy Chain Disease	Splenomegaly, Lymphadenopathy, Dysphagia	ORPHA:100026
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Congenital Fibrinogen Deficiency	Microphthalmia, Splenic rupture	ORPHA:335
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors	ORPHA:404440
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Dysphagia	OMIM:618494
Moebius Syndrome	Microphthalmia, Dysphagia	OMIM:157900
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Attention deficit hyperactivity disorder	OMIM:617914
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Attention deficit hyperactivity disorder, Compulsive behaviors, Aggressive behavior	OMIM:620098
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils	ORPHA:276
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia	OMIM:601859
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:618935
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos, Aggressive behavior	OMIM:310600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy	ORPHA:169090
Refsum Disease	Microphthalmia, Splenomegaly	ORPHA:773
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
3P25.3 Microdeletion Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Griscelli Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:381
Sézary Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:3162
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity	OMIM:617244
Joubert Syndrome 14	Microphthalmia, Irritability	OMIM:614424
Immunodeficiency 91 And Hyperinflammation	Lymphadenopathy, Hepatosplenomegaly	OMIM:619644
Legionnaires Disease	Splenomegaly, Bone marrow hypocellularity, Anorexia, Lymphadenopathy	ORPHA:549
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia, Bone marrow hypocellularity	OMIM:609053
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Lymph node hypoplasia	OMIM:613179
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
3Q29 Microdeletion Syndrome	Microphthalmia, Attention deficit hyperactivity disorder, Aggressive behavior, Depression	ORPHA:65286
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anorexia	ORPHA:514
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Irritability, Lymphadenopathy	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Monosomy 18P	Microphthalmia	ORPHA:1598
Acute Promyelocytic Leukemia	Addictive alcohol use, Anorexia, Lymphadenopathy	ORPHA:520
Hemophagocytic Lymphohistiocytosis, Familial, 2	Splenomegaly, Irritability, Lymphadenopathy, Hepatosplenomegaly	OMIM:603553
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
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
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Graft Versus Host Disease	Irritability, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Lymphadenopathy	OMIM:616100
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Omenn Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:39041
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Carney Triad	Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy	ORPHA:139411
Cinca Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:1451
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Lymphoproliferative Syndrome 1	Splenomegaly, Lymphadenopathy	OMIM:613011
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Felty Syndrome	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:47612
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia, Hyperactivity, Aggressive behavior	OMIM:619148
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100080
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Lymphadenopathy	ORPHA:36412
Castleman Disease	Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy	ORPHA:160
Rodrigues Blindness	Microphthalmia	OMIM:268320
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy	OMIM:603554
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Microphthalmia, Lenz Type	Microphthalmia, Self-injurious behavior	ORPHA:568
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Familial Pancreatic Carcinoma	Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:1333
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:158061
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Waldenström Macroglobulinemia	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:33226
Mixed Connective Tissue Disease	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:809
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
1Q21.1 Microdeletion Syndrome	Microphthalmia, Attention deficit hyperactivity disorder, Depression	ORPHA:250989
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph nod...	ORPHA:50918
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Stromme Syndrome	Accessory spleen, Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100082
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy	ORPHA:540
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Mevalonic Aciduria	Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:610377
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Mosaic Trisomy 9	Asplenia, Microphthalmia	ORPHA:99776
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:615895
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Chediak-Higashi Syndrome	Splenomegaly, Macular hypoplasia, Lymphadenopathy	OMIM:214500
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Aggressive behavior	ORPHA:464738
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Fanconi Anemia, Complementation Group L	Microphthalmia, Bone marrow hypocellularity, Attention deficit hyperactivity disorder	OMIM:614083
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100086
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Q Fever	Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:781
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Fanconi Anemia, Complementation Group F	Microphthalmia, Bone marrow hypocellularity	OMIM:603467
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Micro Syndrome	Microphthalmia	ORPHA:2510
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy	OMIM:617591
Atelis Syndrome 2	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:620185
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity	OMIM:615688
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Microphthalmia, Syndromic 9	Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen	OMIM:601186
Fanconi Anemia, Complementation Group D2	Microphthalmia, Bone marrow hypocellularity, Attention deficit hyperactivity disorder	OMIM:227646
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Hallermann-Streiff Syndrome	Microphthalmia, Hyperactivity	OMIM:234100
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Hepatosplenomegaly	ORPHA:79124
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Hyperactivity	OMIM:223370
Monosomy 9Q22.3	Microphthalmia, Hyperactivity	ORPHA:77301
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Holoprosencephaly	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2162
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Fanconi Anemia, Complementation Group C	Microphthalmia, Bone marrow hypocellularity	OMIM:227645
Meckel Syndrome	Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Incontinentia Pigmenti	Microphthalmia, Attention deficit hyperactivity disorder	ORPHA:464
Cohen Syndrome	Microphthalmia	ORPHA:193
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Histiocytosis-Lymphadenopathy Plus Syndrome	Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:602782
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Frontorhiny	Microphthalmia	ORPHA:391474
Mend Syndrome	Microphthalmia, Hyperactivity, Aggressive behavior	ORPHA:401973
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Splenomegaly, Depression, Hypoplasia of the thymus, Attention deficit...	ORPHA:567
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy	OMIM:619418
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
H Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Poems Syndrome	Lymphadenopathy	ORPHA:2905
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Oculocerebrorenal Syndrome Of Lowe	Depression, Buphthalmos, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperac...	ORPHA:534
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Fryns Syndrome	Microphthalmia	ORPHA:2059
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Abnormal repetitive mannerisms, Optic nerve hypoplasia	ORPHA:508498
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Depression	ORPHA:324625
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Hennekam Syndrome	Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy	ORPHA:2136
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:306400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Microphthalmia	OMIM:620005
Systemic Lupus Erythematosus	Lymphadenopathy, Depression	ORPHA:536
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of the thymus	ORPHA:861
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Behçet Disease	Splenomegaly, Irritability, Anorexia, Lymphadenopathy	ORPHA:117
Common Variable Immunodeficiency	Splenomegaly, Lymphadenopathy	ORPHA:1572
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:37042
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Cockayne Syndrome B	Hypoplasia of the iris, Splenomegaly, Microphthalmia	OMIM:133540
Trisomy 18	Microphthalmia	ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Attention deficit hyperactivity disorder	OMIM:616975
Cousin Syndrome	Microphthalmia	OMIM:260660
Pierson Syndrome

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Gene: Trak2 MGI:1918077

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IMPC Phenotype Summary

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lacZ Expression

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Human diseases caused by Trak2 mutations