Gene Summary

eukaryotic translation initiation factor 2D
Lgtn,  D1Ertd5e

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
enlarged lymph nodes Eif2dem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Eif2dem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Eif2dem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Eif2dem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Eif2d 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 Eif2d by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
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
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Kerion Celsi
Lymphadenopathy ORPHA:499
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Kimura Disease
Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:100024
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Neutropenia, Splenomegaly, Anemia OMIM:602079
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites ORPHA:100025
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Burkitt Lymphoma
Abnormality of the liver, Abnormal lymph node morphology, Abnormality of the spleen, Abnormality ... ORPHA:543
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count OMIM:618982
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... OMIM:615285
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:613101
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:300853
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center OMIM:608184
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... OMIM:150550
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly OMIM:620010
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:240500
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Klatskin Tumor
Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Lymphadenopathy, Ascites ORPHA:26790
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... OMIM:615122
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly ORPHA:172
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites ORPHA:858
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... ORPHA:54251
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:601859
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly ORPHA:391
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... ORPHA:277
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools OMIM:619868
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... ORPHA:2585
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Cirrhosis OMIM:613490
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Thrombocytos... OMIM:614034
Cholesteryl Ester Storage Disease
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis ORPHA:75234
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... OMIM:308240
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M... ORPHA:83469
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Joubert Syndrome 33
Splenomegaly OMIM:617767
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia OMIM:615085
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Cholestasis, Progressive Familial Intrahepatic, 3
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... OMIM:602347
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy OMIM:607115
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... OMIM:615234
Myeloproliferative disorder, Splenomegaly OMIM:254450
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... OMIM:618935
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Lymphadenopathy, Neoplasm of the liver ORPHA:654
Hurler-Scheie Syndrome
Abnormality of the tonsils, Hepatomegaly, Splenomegaly ORPHA:93476
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Eosi... ORPHA:911
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Splenomegaly, Anemia OMIM:618107
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Splenomegaly OMIM:300635
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia ORPHA:163596
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... OMIM:266200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... OMIM:601847
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Microc... OMIM:257200
Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm... ORPHA:3392
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Sézary Syndrome
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3162
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... ORPHA:276
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis OMIM:602390
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Pancytopenia, Splenomegaly OMIM:231000
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Neutropenia, P... ORPHA:98850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... OMIM:616100
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Sclerosing Cholangitis, Neonatal
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... OMIM:617394
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Anemia ORPHA:69077
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... ORPHA:848
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Abnormal lymph node morphology, Jaundice, Pancreatic calcification ORPHA:677
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... OMIM:612714
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... OMIM:613179
Omenn Syndrome
Leukocytosis, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Eosinophilia, Lymphadenopathy... ORPHA:39041
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis OMIM:235555
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... ORPHA:169154
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... ORPHA:158061
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Lymphadenitis, Lymphopenia, Impaired... OMIM:618986
Wolman Disease
Bone-marrow foam cells, Anemia, Hepatomegaly, Splenomegaly, Ascites ORPHA:75233
Roifman Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:616651
Glycogen Storage Disease Ixc
Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content OMIM:613027
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Monocytopenia, Ne... OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 1
Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... OMIM:211600
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the liver, Hepatomegaly, Lymphadenopathy, Lymphocytos... ORPHA:79456
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly ORPHA:169090
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Neutrophil... OMIM:619644
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Cervical lymphadenopathy, Decreased eosinophil count, Lymphop... ORPHA:2686
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia OMIM:619750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... OMIM:224120
Papa Syndrome
Lymphadenopathy ORPHA:69126
Adult-Onset Still Disease
Generalized lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Hepatitis, ... ORPHA:829
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Anemia, Increased proportion of e... OMIM:619824
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Fetal Gaucher Disease
Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233710
Felty Syndrome
Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen... ORPHA:47612
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... OMIM:603903
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Ascites ORPHA:2414
Boutonneuse Fever
Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Leukopenia ORPHA:83313
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly OMIM:207750
Aregenerative Anemia
Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro... ORPHA:101096
Bile Acid Synthesis Defect, Congenital, 1
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Cinca Syndrome
Leukocytosis, Abnormal granulocyte morphology, Anemia, Abnormality of neutrophils, Hepatomegaly, ... ORPHA:1451
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, Lymphadenopath... OMIM:618048
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Cirrhosis, Splenomegaly, Hepatitis, Thrombocyt... OMIM:308230
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy, Eosinophilia ORPHA:353298
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... OMIM:278000
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:233690
Castleman Disease
Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Budd-Chiari Syndrome
Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Cholecystitis, Splenomegaly,... ORPHA:131
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Splenomegaly OMIM:616589
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Lymphopenia, Decreased pro... OMIM:616005
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Autoimmune thrombocytopenia, Neutropenia, Eosinophilia, Hepatitis, Thrombocytopenia, Lymp... OMIM:304790
Bile Acid Synthesis Defect, Congenital, 3
Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... OMIM:613812
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lym... ORPHA:514
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Jaundice, Neoplasm of the liver, Pancreatic adenocarcinoma, Extrahepatic chol... ORPHA:1333
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Hepatomegaly, Lymphopenia, Thrombocytopenia, Lymphadenopathy, Splenomegaly OMIM:617591
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ... ORPHA:79124
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Acute leukemia ORPHA:3318
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Cryoglobulinemic Vasculitis
Abnormality of the liver, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Viral hepatitis ORPHA:91138
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Autoimmune hemolytic anemia, B lym... OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopeni... OMIM:603553
Infantile Liver Failure Syndrome 3
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:618641
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, ... OMIM:267700
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Ly... ORPHA:540
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly, Impaired... OMIM:214500
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Gaucher Disease, Type I
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:230800
Legionnaires Disease
Jaundice, Pancreatitis, Bone marrow hypocellularity, Lymphopenia, Hepatitis, Lymphadenopathy, Spl... ORPHA:549
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Biliary tract obstruction, Biliary tract neoplasm, Chronic noninfectious l... ORPHA:100086
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Anemia, Cholestasis, Hepatic fibrosis, Hepatomegaly, Lymphadenitis, Lymphadenopathy... OMIM:615895
Chronic Granulomatous Disease
Liver abscess, Abnormality of neutrophils, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:379
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute leukemia ORPHA:99812
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Lymphadenopathy, Neutrophilia, Splenomegaly OMIM:260920
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Generalized lymphadenopathy, Chronic neutr... OMIM:614700
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Thrombocytopenia, Lympha... OMIM:610377
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Bile duct proliferation, Hepatic fibro... OMIM:208540
Immunodeficiency 55
Absent natural killer cells, Lymphadenopathy, Lymphopenia, Neutropenia OMIM:617827
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Ascites ORPHA:36412
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly OMIM:238600
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Anemia, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy ORPHA:85450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Por... OMIM:607626
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... ORPHA:809
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Common Variable Immunodeficiency
Hemolytic anemia, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia, Lymphadenop... ORPHA:1572
Adams-Oliver Syndrome 5
Hypersplenism, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy OMIM:616028
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... ORPHA:822
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... OMIM:306400
Acute Promyelocytic Leukemia
Leukocytosis, Leukopenia, Anemia, Thrombocytopenia, Lymphadenopathy, Pancytopenia, Neutropenia ORPHA:520
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Anemia, Hepatomegaly, Prolonged neonatal jaundice, Polysplenia, Cirrho... OMIM:619418
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... ORPHA:2442
Caroli Disease
Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... ORPHA:53035
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Abnormal lymphatic vesse... ORPHA:464329
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia ORPHA:52417
Gaucher Disease Type 1
Leukopenia, Biliary tract obstruction, Anemia, Hepatomegaly, Cirrhosis, Hypersplenism, Thrombocyt... ORPHA:77259
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Left ventricular hypertrophy, Anemia, Chronic noni... ORPHA:31150
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Leukopenia, Cervical lymphadenopathy, Anemia, Hepatomegaly, Abnormal... ORPHA:50918
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Thrombocytopenia, Increased mean platelet volume, Splenomegaly OMIM:153670
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Ascites ORPHA:139411
Hyperlipoproteinemia, Type Id
Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly OMIM:615947
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Fetal ... OMIM:257220
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Anemia, Neutropenia, B lymphocytopenia, Lymph no... OMIM:300755
Graft Versus Host Disease
Hepatosplenomegaly, Acute hepatitis, Jaundice, Hemophagocytosis, Chronic hepatitis, Lymphadenopathy ORPHA:39812
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Reticulocytosis, Lymphopenia, ... ORPHA:3261
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Leukemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:33226
Parenteral Nutrition-Associated Cholestasis
Jaundice, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal hypertension, Hepatic steatosis, Bili... ORPHA:567983
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatomegaly, Retroperitonea... OMIM:602782
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Thrombocyt... OMIM:615934
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Lymphadenopathy, Lymphocytosis, Eosinophilia ORPHA:139402
Q Fever
Hepatosplenomegaly, Abnormality of the liver, Anemia, Hepatomegaly, Hepatitis, Thrombocytopenia, ... ORPHA:781
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Leukocytosis, Leukopenia, Anemia, Bone marrow hypocellularity, Hepatomegaly, ... OMIM:615688
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Lymphocytosis, Decreased mean platel... OMIM:617718
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Pancre... OMIM:263200
Glycogen Storage Disease Xii
Jaundice, Normocytic anemia, Anemia, Hepatomegaly, Cholecystitis, Normochromic anemia, Nonspheroc... OMIM:611881
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Giant platelets, Stomatocytosis, Thrombocytop... OMIM:210250
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia, Thrombocytopenia, Lymphadenopathy, As... ORPHA:93552
Gaucher Disease, Type Iiic
Cardiomegaly, Pancytopenia, Hepatomegaly, Splenomegaly OMIM:231005
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Acute Interstitial Pneumonia
Lymphadenopathy, Reduced hematocrit ORPHA:79126
Farber Disease
Hepatosplenomegaly, Anemia, Intrahepatic cholestasis with episodic jaundice, Hepatic fibrosis, Th... ORPHA:333
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100080
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Hepatome... OMIM:614162
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Isolated Biliary Atresia
Jaundice, Cholestasis, Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Prolonged neon... ORPHA:30391
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Neoplasm of the liver, Biliary tract obstruction, Intrahepatic cholestasis... ORPHA:100085
T-Cell Immunodeficiency With Thymic Aplasia
Atypical or prolonged hepatitis, T lymphocytopenia, Decreased proportion of naive T cells, Lympha... ORPHA:83471
Multiple Myeloma
Lymphadenopathy, Splenomegaly, Anemia ORPHA:29073
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hepatosplenomegaly, Jaundice, Hemophagocytosis, Anemia, Abnormality of ne... ORPHA:167
Poems Syndrome
Polycythemia, Lymphadenopathy, Thrombocytosis, Visceromegaly, Ascites ORPHA:2905
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Leukocytosis, Cholestasis, Hepatomegaly, Hilar lymph node enlargement, Mediastinal lymphadenopathy OMIM:620233
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100082
H Syndrome
Hepatosplenomegaly, Enlarged kidney, Microcytic anemia, Histiocytosis, Lymphadenopathy ORPHA:168569
Submandibular lymph node enlargement OMIM:118400
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy, Anemia ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:37042
Familial Mediterranean Fever
Peritonitis, Pancreatitis, Lymphadenopathy, Splenomegaly, Ascites ORPHA:342
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:97287
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:32960
Hennekam Syndrome
Lymphangioma, Lymphopenia, Lymphadenopathy, Pulmonary lymphangiectasia, Splenomegaly, Ascites ORPHA:2136
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD3-positive T cell... ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia OMIM:607944
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Cholangitis, Generalized lymphadenopathy, Myeloproliferative disorder, Leukoc... ORPHA:3260
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Eosinophilia, Lymphadenopathy ORPHA:449432
Duodenal Neuroendocrine Tumor
Intrahepatic cholestasis with episodic jaundice, Insulinoma, Extrahepatic cholestasis, Lymphadeno... ORPHA:100076
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia ORPHA:100077
Leukocytosis, Liver abscess, Leukopenia, Abnormality of the liver, Anemia, Hepatomegaly, Thromboc... ORPHA:1304
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites ORPHA:538
Peritonitis, Abnormality of the liver, Pancreatitis, Eosinophilia, Lymphadenopathy, Abnormality o... ORPHA:228123
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Hepatomegaly, Iron deficiency anemia ORPHA:100075
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Anemia ORPHA:667
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hemolytic anemia, Anemia, Hepatomegaly, Hepatitis, Thrombocytopenia,... OMIM:615846
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Hepatitis, Follicular hyperplasia, Decreased proportio... OMIM:619381
Immunodeficiency 87 And Autoimmunity
Jaundice, Cervical lymphadenopathy, Hemolytic anemia, Decreased CD4:CD8 ratio, Cholestasis, Autoi... OMIM:619573
Crimean-Congo Hemorrhagic Fever
Jaundice, Leukocytosis, Leukopenia, Hepatomegaly, Acute pancreatitis, Thrombocytopenia, Cholecyst... ORPHA:99827
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Hepatomegaly, Pancytopenia, Mediastinal lymphadenopathy, Splenomegaly OMIM:181000
Follicular hyperplasia ORPHA:556
Leukopenia, Hemolytic anemia, Abnormal liver parenchyma morphology, Anemia, Hepatomegaly, Eosinop... ORPHA:797
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Chronic active hepatitis, Chronic hepatitis, Lymphopenia, Thromboc... ORPHA:289390
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Behçet Disease
Pancreatitis, Lymphadenopathy, Splenomegaly ORPHA:117
Igg4-Related Ophthalmic Disease
Cholangitis, Pancreatitis, Retroperitoneal fibrosis, Eosinophilia, Lymphadenopathy ORPHA:449563
Neuroendocrine Neoplasm Of Appendix
Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100079
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Splenomegaly OMIM:256040
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Jaundice, Reticulocytosis, Leukopenia, Pancreatitis, Abnor... ORPHA:99826
Kawasaki Disease
Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis, Cholecystitis ORPHA:2331
Igg4-Related Kidney Disease
Enlarged kidney, Pancreatitis, Lymphadenitis, Retroperitoneal fibrosis, Abnormality of mesentery ... ORPHA:449395
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis ORPHA:79078
Blau Syndrome
Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liver ORPHA:90340
Jaundice, Hepatomegaly, Hepatitis, Thrombocytopenia, Lymphadenopathy ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Neoplasm of the thymus, Lymphopenia, Decreased eosinophil count, Pancreatic adenoca... ORPHA:99889
African Trypanosomiasis
Hepatosplenomegaly, Jaundice, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3385


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 Eif2d

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 Eif2d.

No publications found that use IMPC mice or data for Eif2d.

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MGI Allele Allele Type Produced
Eif2dem1(IMPC)Mbp Exon Deletion Mice, Tissue

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