banner
Genes Phenotypes Help, News, Blog

Gene: Lgals9 MGI:109496

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
lectin, galactose binding, soluble 9
Synonyms:
galectin-9,  Lgals5,  gal-9,  LGALS35

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Lgals9 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 Lgals9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop... OMIM:618806
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi... OMIM:618204
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count OMIM:613495
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis, Osteoarthriti... OMIM:607850
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
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
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Immunodeficiency 19
T lymphocytopenia, Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Arthropathy, Osteoarthritis OMIM:118600
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immunodeficiency 13
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv... OMIM:615518
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Nephritis, Autoimmunity OMIM:216950
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Talo-Patello-Scaphoid Osteolysis
Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaphoids ORPHA:50809
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a... OMIM:612260
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased lymphocyte proliferation in resp... ORPHA:276
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Arthritis, T lymphocytopenia, Purulent rhinitis, Otitis media, Conjunctivitis,... OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis OMIM:247800
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Osteoarthritis Susceptibility 2
Heberden's node, Osteoarthritis OMIM:140600
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia, Autoimmunity ORPHA:169079
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase... OMIM:615559
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Developmental Dysplasia Of The Hip 2
Arthritis, Hip osteoarthritis OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Delayed ossification of carpal bones, Hip osteoarthritis... OMIM:105835
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocyto... OMIM:152700
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile abscess, Pancytopenia, Arthritis, Elbow flexion contracture, Sterile arthritis, Cys... OMIM:604416
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen... OMIM:226990
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis, Anti-thyroid peroxidase ... ORPHA:277
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Transient neutropenia, Decreased circu... OMIM:619707
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the... OMIM:618108
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Wolman Disease
Hepatomegaly, Splenomegaly, Adrenal calcification OMIM:620151
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthritis, Arthropathy, Wrist flexion contracture, Generalized morni... OMIM:208250
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central ... ORPHA:514
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Polyarticular arthritis, Arthr... ORPHA:85435
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor... ORPHA:54251
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Eczematoid dermatitis, Decreased proportion of CD4-positive helper T cells, Ly... OMIM:619510
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
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
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly OMIM:620010
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Arthritis, Limitation of joint mobility, Osteoarthritis, Joint swelling, Chond... ORPHA:1416
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Decreased circulating IgG le... OMIM:620603
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
C1Q Deficiency 2
Recurrent otitis media, Anemia, Malar rash, Arthritis, Discoid lupus rash, Chilblains, Rheumatoid... OMIM:620321
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis OMIM:613313
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ... OMIM:102700
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level... OMIM:304790
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Recurrent bacterial skin infections, Atopic dermatitis, ... ORPHA:217390
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, T lymphocytopenia, Antimitoc... OMIM:610163
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... OMIM:616738
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Arthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Antinucl... ORPHA:85410
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Systemic-Onset Juvenile Idiopathic Arthritis
Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Joint swelling, Autoimmunity,... ORPHA:85414
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, As... ORPHA:98850
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:243150
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... ORPHA:39041
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus OMIM:609939
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Neutropeni... ORPHA:572
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren... ORPHA:75233
Farber Lipogranulomatosis
Lipogranulomatosis, Osteolytic defects of the phalanges of the hand, Limitation of knee mobility,... OMIM:228000
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Diabetes mellitus, Hepatic steatosis OMIM:612526
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Hemochromatosis, Type 3
Arthritis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo... ORPHA:848
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Systemic lupus erythematosus ORPHA:399180
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Abnormality of the wrist, Anemia, Hip osteoarthritis, Synovial lining hyperplasia... ORPHA:85408
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Cranio-Osteoarthropathy
Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthritis, Abnormality of the knee, Joint... ORPHA:1525
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Leukopenia... ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:617591
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating... OMIM:620565
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Felty Syndrome
Chronic otitis media, Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobi... ORPHA:47612
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Diabetes insipidus, Testicular neoplasm, Neoplasm of the thymu... ORPHA:744
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Ataxia-Telangiectasia
Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Decreased circ... OMIM:208900
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Wormian bones, T lymphocytopenia, Dec... OMIM:617237
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Cinca Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Patellar overgrowth, Hepatosplenomegaly, Eosinophilia... OMIM:607115
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Dec... ORPHA:540
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy, Lymphocytosis, Thyroiditis, Eosinophilia, Hepatitis ORPHA:139402
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti... OMIM:615607
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Polyarticular arthritis, Rheumatoid factor positi... OMIM:180300
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Pyoderma Gangrenosum
Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myeloid leukemia ORPHA:48104
Psoriasis 14, Pustular
Cholangitis, Polyarticular arthritis, Leukocytosis, Pustule, Neutrophilia, Psoriasiform dermatiti... OMIM:614204
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Eosinophilic granuloma, T... OMIM:616433
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorch... OMIM:612541
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Pustule, Systemic lupus erythematosus ORPHA:48377
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227990
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a... OMIM:106300
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Acute hepatiti... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Overlap Myositis
Subluxation of the small joints of the hand, Arthritis, Rheumatoid arthritis, Antinuclear antibod... ORPHA:206572
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Recurrent otitis media, Juvenile rheumatoid arthritis, T lymphocyto... OMIM:607944
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Autoimmune antibody positivity, Inflam... OMIM:301054
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, B lymphocytopenia, Thyroiditis, T lymphocy... OMIM:606367
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Osteopenia, Non-caseating epithelioid cell granulomatosis, Macr... ORPHA:227982
Kikuchi-Fujimoto Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement... ORPHA:50918
Vertical Talus, Congenital
Arthritis OMIM:192950
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lym... ORPHA:1667
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Thymoma
Aplastic anemia, Myositis, Rheumatoid arthritis, Pure red cell aplasia, Systemic lupus erythemato... ORPHA:99867
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell morphology, T lymp... OMIM:615966
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of the thymus, Hypothyroidism, Incr... ORPHA:84064
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Pure red cell apla... ORPHA:589
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, T lymphocytopenia, Sinusitis, Bronchiectasis, Reduced natural killer cell count OMIM:242860
Melioidosis
Lung abscess, Pneumonia, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelit... ORPHA:31202
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ... OMIM:306400
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Chronic gastritis, Skin ... OMIM:301074
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atop... ORPHA:183675
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Cryptorchidism OMIM:214110
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Juvenile rheumatoid arthritis, Pancytopenia, Anti-dsDNA antibody pos... ORPHA:1855
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Rat-Bite Fever
Morbilliform rash, Myocarditis, Anemia, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymphadeni... ORPHA:31205
Relapsing Fever
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Chronic mucocutaneous candidiasis, Abno... ORPHA:79124
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis OMIM:249100
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus OMIM:617022
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Leukopenia, Diabet... ORPHA:36238
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim... ORPHA:436252
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Anemia, Gastritis, B lymphocytopenia, Skin rash, Decreased proportion of ... OMIM:619381
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho... OMIM:618223
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Blau Syndrome
Iritis, Flexion contracture of toe, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Ca... OMIM:186580
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Anti-smooth muscle antibody ... ORPHA:49041
Lymphoid Interstitial Pneumonia
Skin rash, Eczematoid dermatitis, Rheumatoid arthritis, Autoimmune antibody positivity, Bronchiec... ORPHA:79128
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Parotitis... ORPHA:99827
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Ascites, Hypoplasia of the thymus, Right ventricular hypert... OMIM:613177
Hereditary Xanthinuria
Rheumatoid arthritis, Arthropathy, Gout ORPHA:3467
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, T lymphocytopenia, Generalized osteoporosis, Multiple joint contractures, Microcytic ... ORPHA:2959
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Decreased proportion of CD8-positive T cells, Craniosynostosis, Elbow fle... ORPHA:508533
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Impaired T cell function, Hypothyroidism, Parat... OMIM:188400
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Liver Disease, Severe Congenital
Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea... OMIM:619991
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusi... OMIM:251260
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Impaire... ORPHA:567
Treacher-Collins Syndrome
Abnormality of the adrenal glands, Cryptorchidism, Thyroid hypoplasia, Hypoplasia of the thymus ORPHA:861
Eec Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... ORPHA:1896
Vici Syndrome
Chronic mucocutaneous candidiasis, T lymphocytopenia, Decreased proportion of CD4-positive helper... OMIM:242840
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism... OMIM:620186
Yellow Fever
Jaundice, Acute pancreatitis, Leukocytosis, Increased circulating IgM level, Neutrophilia, Thromb... ORPHA:99829
Truncus Arteriosus
Cardiomegaly, Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy ORPHA:3384
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Ramon Syndrome
Juvenile rheumatoid arthritis OMIM:266270

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 Lgals9

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 Lgals9.

No publications found that use IMPC mice or data for Lgals9.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Lgals9tm12(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter