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Gene: Eya2 MGI:109341

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Gene Summary

Name:
EYA transcriptional coactivator and phosphatase 2
Synonyms:
N/A

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 spleen morphology Eya2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Eya2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Eya2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Eya2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Eya2em1(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 Lateral Orientation

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

84 Images

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Histopathology

Images

17 Images

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Human diseases caused by Eya2 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 Eya2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Hepatosplenomegaly OMIM:242520
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Kerion Celsi
Lymphadenopathy ORPHA:499
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Mediastinal lymphadenopathy OMIM:234810
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly ORPHA:858
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Joubert Syndrome 33
Splenomegaly OMIM:617767
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp... OMIM:618935
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Mevalonic Aciduria
Splenomegaly ORPHA:29
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Splenomegaly OMIM:602390
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Gracile Bone Dysplasia
Hypoplastic spleen, Ascites, Asplenia OMIM:602361
Ciliary Dyskinesia, Primary, 53
Cardiomegaly, Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop... ORPHA:3240
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Splenomegaly ORPHA:2414
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Rhabdoid Tumor
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy ORPHA:69077
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Papa Syndrome
Lymphadenopathy ORPHA:69126
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen... OMIM:619644
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233710
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Adams-Oliver Syndrome 6
Hepatic fibrosis, Splenomegaly, Portal hypertension OMIM:616589
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Exaggerated startle re... OMIM:616881
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Splenomegaly OMIM:228000
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia,... ORPHA:160
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph... ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver ORPHA:91138
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal... ORPHA:79124
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia OMIM:618394
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr... ORPHA:540
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:252920
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Tremor, Abnormal auditory evoked poten... ORPHA:99027
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly OMIM:235200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hemolytic anemia ORPHA:529799
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He... OMIM:615895
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Ascites, Hepatomegaly, Splenomegaly ORPHA:36412
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy, Chronic nonin... ORPHA:97289
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Transaldolase Deficiency
Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenomegaly, Micronodular cir... OMIM:606003
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis ORPHA:99812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ... ORPHA:398124
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis... OMIM:208540
Mirage Syndrome
Anemia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85450
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic... ORPHA:77259
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a... ORPHA:809
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni... OMIM:609136
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia ORPHA:520
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Carcinoid Syndrome
Hepatic necrosis, Chronic noninfectious lymphadenopathy ORPHA:100093
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Autoimmune Hepatitis
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular... ORPHA:2137
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Cockayne Syndrome Type 1
Optic atrophy, Anemia, Tremor, Absent brainstem auditory responses, Hearing impairment, Macrotia,... ORPHA:90321
Carney Triad
Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia ORPHA:139411
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat... ORPHA:31150
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly... OMIM:300755
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia,... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy ORPHA:139402
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis ORPHA:2905
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... OMIM:210250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Gaucher Disease, Type Iiic
Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231005
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Q Fever
Hepatomegaly, Anemia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:781
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi... OMIM:251880
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... OMIM:615934
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome... OMIM:602782
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy... OMIM:263200
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a... ORPHA:93552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr... OMIM:615688
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Cholelithiasis, Resting tremor, Abnormal audi... ORPHA:909
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis OMIM:620233
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Multiple Myeloma
Lymphadenopathy, Anemia, Splenomegaly ORPHA:29073
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... ORPHA:2035
Neuroblastoma
Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass ORPHA:635
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau... OMIM:300972
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis OMIM:616084
Cherubism
Submandibular lymph node enlargement OMIM:118400
Congenital Syphilis
Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy... ORPHA:499009
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten... OMIM:610199
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t... OMIM:620565
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:97287
H Syndrome
Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis ORPHA:32960
Hennekam Syndrome
Lymphadenopathy, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia ORPHA:2136
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis ORPHA:342
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati... ORPHA:3260
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449432
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte... ORPHA:731
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites ORPHA:538
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy ORPHA:100075
Reynolds Syndrome
Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia OMIM:613471
Brucellosis
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr... ORPHA:1304
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis ORPHA:100078
Coccidioidomycosis
Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormality of the spleen, Peritoniti... ORPHA:228123
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:667
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Thrombocytopenia, Splenomegaly, Generalized lympha... OMIM:615846
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly OMIM:612132
Mend Syndrome
Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite... OMIM:619573
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy OMIM:181000
Malakoplakia
Follicular hyperplasia ORPHA:556
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Leukocytosis, Ascites,... ORPHA:99827
Igg4-Related Kidney Disease
Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Lymphadenitis, Abnormal m... ORPHA:449395
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Primary Sjögren Syndrome
Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho... ORPHA:289390
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100079
Behçet Disease
Lymphadenopathy, Pancreatitis, Splenomegaly ORPHA:117
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia ORPHA:536
Blau Syndrome
Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly ORPHA:90340
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia OMIM:256040
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy ORPHA:79078
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy... ORPHA:99826
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis ORPHA:509
Kawasaki Disease
Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis ORPHA:2331
Plague
Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly ORPHA:707
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos... ORPHA:99889
African Trypanosomiasis
Jaundice, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385

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 Eya2

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 Eya2.

No publications found that use IMPC mice or data for Eya2.

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MGI Allele Allele Type Produced
Eya2tm29455(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Eya2em1(IMPC)Mbp Exon Deletion Mice, Tissue

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