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 2
Synonyms:
2200008F12Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Lgals2 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 Lgals2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Neutropenia, Recurrent otitis media OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, I... OMIM:614470
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... OMIM:618534
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, L... OMIM:619220
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Neutropenia, Increased circulating IgA level, Lymphadenopathy, Decreased lymphocyte... ORPHA:169154
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... OMIM:601495
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... OMIM:312863
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immunodeficiency 46
Neutropenia, Chronic oral candidiasis, Decreased circulating antibody level, Anemia, Intermittent... OMIM:616740
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... ORPHA:276
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasis OMIM:193670
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia OMIM:616022
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... OMIM:150550
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, B lymphocytopenia, Absent tonsils, Lack of T cel... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Diarrhea, Enlarged tonsil... OMIM:308230
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neutropil antibo... ORPHA:572
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Recurrent ... ORPHA:2688
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Increased circulating antibo... OMIM:618495
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Immunodeficiency 55
Eczema, Neutropenia, Lymphadenopathy, Recurrent skin infections, Diarrhea OMIM:617827
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Thrombocyt... OMIM:603552
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... OMIM:615767
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Vomiting, Decreased circulating IgG level, Secretory diarrhea, Diarrhea OMIM:600351
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Protracted diarrhea, Decreased circulat... ORPHA:169160
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... OMIM:617765
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Boutonneuse Fever
Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM l... ORPHA:83313
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Vomiting, Decreased circulating IgA level, Oligoarthritis, Decreased circul... OMIM:619510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Eosinophilia, Erythroderma, Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopath... OMIM:304790
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... ORPHA:331206
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA level, ... OMIM:240500
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Vomiting, Decreased circulating IgA level, Decreased circulating ... OMIM:275350
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Neutropenia, Dysphagia, Decreased circulating IgG le... OMIM:608809
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Biliary tract abnormality,... OMIM:209920
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... OMIM:614493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... OMIM:617241
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Recurrent aphth... ORPHA:3261
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Aggressive Systemic Mastocytosis
Portal hypertension, Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anem... ORPHA:98850
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Lymphadenopathy, Hepatitis, Anemi... ORPHA:158061
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Reduced natural killer cell count, Hepatos... OMIM:618261
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia, ... OMIM:618963
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythrode... ORPHA:540
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... ORPHA:37748
Hemochromatosis, Type 3
Neutropenia, Anemia, Arthritis, Cirrhosis, Lymphopenia OMIM:604250
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Lymphadenopathy, Chronic oral candidiasis, Decreased lympho... ORPHA:911
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Perianal abscess, ... ORPHA:2686
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Leukem... ORPHA:486
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, Diarrhea, T lymp... OMIM:601457
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... ORPHA:47612
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Bone marrow hypocellularity, Anemia, Persistence ... OMIM:618849
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Poikiloderma With Neutropenia
Neutropenia, Recurrent otitis media, Splenomegaly, Recurrent pneumonia, Blepharitis, Recurrent si... OMIM:604173
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Decreased serum complement C3 ORPHA:79087
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... ORPHA:35078
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG level, Decreased... OMIM:613011
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Increased circulating IgG level ORPHA:206594
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Abn... ORPHA:3392
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Allergic rhinitis, Conjunctivitis ORPHA:26137
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Thrombocytopenia, Diarrhea, Folate-responsive megaloblastic anemia OMIM:229050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Decre... ORPHA:275
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Recurrent otitis media, Anemia, Intractable dia... OMIM:617475
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Tubulointerstitial nephritis, Neutropenia, Neutropenia in presence of anti-neutropil anti... ORPHA:37042
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, B lymphocytopenia, Erythroderma, Decreased circulating IgA level... OMIM:606367
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Slc35A1-Cdg
Neutropenia, Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Reduced natural killer cell activity, Chronic oral candidiasis, Recurr... OMIM:608233
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Chronic diarrhea, Increased circulatin... OMIM:618523
Angiostrongyliasis
Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, Increased cir... ORPHA:74
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy,... ORPHA:331235
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Leishmaniasis
Hepatomegaly, Leukopenia, Rhinitis, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Increased circulat... OMIM:618213
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Lymphopenia, Thro... OMIM:242900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Pelger-Huet Anomaly
Eczema, Neutropenia, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Giant platele... OMIM:169400
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Malar rash, Aplastic a... ORPHA:398124
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Decreased... OMIM:615952
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Whim Syndrome
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... ORPHA:51636
Aspergillosis
Sinusitis, Infectious encephalitis, Neutropenia, Pneumonia, Bronchiectasis, Hepatitis, Osteomyeli... ORPHA:1163
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, Anemia, A... ORPHA:292
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Impaired T cell function, Neutropenia in presence of anti-neutropil antibod... OMIM:613179
Hyper-Igd Syndrome
Leukocytosis, Vomiting, Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis,... OMIM:260920
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Vomiting, Abnormal hemogl... ORPHA:35858
Hemophagocytic Syndrome Associated With An Infection
Abnormal inflammatory response, Hepatomegaly, Abnormal cytokine signaling, Neutropenia, Anemia, S... ORPHA:158048
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Gout, Neutropenia OMIM:617056
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Diamond-Blackfan Anemia 11
Anemia, Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production OMIM:614900
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Complete or nea... OMIM:613496
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Patent duct... OMIM:612541
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jau... OMIM:246400
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Nephritis, Bone marrow hypocellularity, Anemia, Patent duc... OMIM:617303
Fusariosis
Sinusitis, Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Pneumonia, Bronch... ORPHA:228119
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Chronic neutropenia OMIM:258360
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytop... OMIM:615846
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Chronic otitis media, Lymphadenopathy, Bone marrow hy... ORPHA:3226
Retinal Venous Beading
Nephritis, Neutropenia OMIM:180080
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Lymphocytos... OMIM:617718
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia OMIM:251900
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, C... OMIM:616005
Ebola Hemorrhagic Fever
Dysphagia, Leukopenia, Vomiting, Nausea, Hepatitis, Melena, Increased circulating antibody level,... ORPHA:319218
Necrotizing Enterocolitis
Leukocytosis, Bloody diarrhea, Neutropenia, Vomiting, Peritonitis, Thrombocytopenia, Diarrhea ORPHA:391673
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Pancytopenia, Thrombo... ORPHA:520
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Lymphadenopathy, Abnormality of ... ORPHA:79456
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... OMIM:242860
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Xerostomia, Lymphadenopathy, Retroperitoneal fibrosis, Increased circul... ORPHA:449432
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Propionic Acidemia
Hepatomegaly, Eczema, Neutropenia, Vomiting, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia... OMIM:606054
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Hepatomegaly, Myositis, Lymphadenopathy, Panniculitis, Anemia, Arthritis, Splenomegaly... OMIM:617591
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Monoclonal immunoglobulin M proteinemi... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia OMIM:266265
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Gastroesophageal reflux, Neutropenia OMIM:614857
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... ORPHA:1830
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... ORPHA:829
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Shwachman-Diamond Syndrome
Sinusitis, Eczema, Neutropenia, Pancreatic hypoplasia, Leukemia, Steatorrhea, Pancytopenia, Bone ... ORPHA:811
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Anemia, S... ORPHA:90051
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Uveitis, Skin rash, Eosinop... OMIM:607115
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Eczema, Neutropenia, Leukopenia, Panniculitis, Bone marrow hypocellularity, An... ORPHA:508542
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... ORPHA:906
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Impaired lymphocyte transformation with phytohemaggl... OMIM:301000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:614520
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Eosinophilia, Increased circulating IgG1 level, In... ORPHA:449395
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Monoclonal eleva... ORPHA:555905
Wolcott-Rallison Syndrome
Hepatomegaly, Neutropenia, Iron deficiency anemia, Abnormality of the liver, Lymphocytosis, Exocr... ORPHA:1667
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Esophagitis, Recurrent otitis ... OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Stomatitis, Megaloblastic anemia, Skin rash, Pancytopenia, Thrombocytopenia OMIM:277380
Ataxia-Telangiectasia
Sinusitis, Bronchiectasis, Decreased circulating IgA level, Leukemia, Defective B cell differenti... OMIM:208900
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... ORPHA:449427
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Arthritis, Uveitis, Skin rash, Conjunctivitis OMIM:120100
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vomiting, Abnormality of the l... ORPHA:2169
Tick-Borne Encephalitis
Leukocytosis, Abnormality of serum cytokine level, Dysphagia, Leukopenia, Vomiting, Nausea, Incre... ORPHA:297
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Intermittent diarrhea, Neutrophilia, Hepatosplenomega... OMIM:619644
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Vomiting, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Coccidioidomycosis
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Lymphadenopathy, M... ORPHA:228123
Netherton Syndrome
Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Increased circulating IgE level... OMIM:256500
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Lymphadenopathy, Recurrent otitis media, Autoimmune thrombocytopenia, Rhe... OMIM:607944
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Nausea, Lymphadenopath... ORPHA:98849
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Abnormal lymphocyte morphol... ORPHA:39041
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Myocardia... OMIM:260400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Increased circulating interleukin 6, Inflammation of th... ORPHA:3243
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia OMIM:614204
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Vomiting, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Increased hepatiti... ORPHA:90003
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... ORPHA:723
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Anemia, Steatorrhea, Eos... ORPHA:2070
Immunodeficiency 47
Hepatomegaly, Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG... OMIM:300972
Rift Valley Fever
Infectious encephalitis, Hepatitis, Anemia, Increased circulating IgG level, Melena, Uveitis, Inc... ORPHA:319251
Multiple Myeloma
Increased circulating IgA level, Lymphadenopathy, Decreased circulating antibody level, Anemia, I... ORPHA:29073
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Infection associated neutropenia, Bone marrow hypocellularity, Neutropenia ORPHA:445038
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Neutropenia, Pustule, Leukopenia, Lymphadenopathy, Anemia, Abnormality... ORPHA:50918
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Stomatitis, Megaloblastic anemia, Skin rash, Reduced number of intrahepatic bile ducts ORPHA:79284
Crimean-Congo Hemorrhagic Fever
Myocarditis, Lymphadenopathy, Melena, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia, ... ORPHA:99827
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Steatorrhea, Thrombocytope... OMIM:617941
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Neutropenia OMIM:609053
Zygomycosis
Sinusitis, Myocarditis, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, Gast... ORPHA:73263
Muckle-Wells Syndrome
Leukocytosis, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis OMIM:191900
Insulin-Resistance Syndrome Type B
Pneumonia, Leukopenia, Increased circulating IgA level, Nephritis, Decreased serum complement fac... ORPHA:2298
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Neonatal Alloimmune Neutropenia
Jaundice, Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Prolidase Deficiency
Hepatomegaly, Eczema, Thrombocytopenia, Anemia, Splenomegaly, Increased circulating antibody leve... OMIM:170100
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Liv... ORPHA:183675
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, B lymphocytopenia, Decreased circulating total IgA, Decreased specific a... ORPHA:221139
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Evans Syndrome
Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an... ORPHA:1959
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Vomiting, Normocytic hypoplastic anemia, Lymphadenopathy,... OMIM:610377
Cinca Syndrome
Leukocytosis, Hepatomegaly, Retrobulbar optic neuritis, Lymphadenopathy, Anemia, Abnormal granulo... ORPHA:1451
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... OMIM:619381
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob... ORPHA:400
Relapsing Fever
Leukocytosis, Leukopenia, Vomiting, Anemia, Neutrophilia, Thrombocytopenia, Diarrhea, Jaundice ORPHA:91547
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Crohn's... OMIM:249100
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Abnormal lymphatic vessel morphology,... ORPHA:2330
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Proteasome-Associated Autoinflammatory Syndrome 1
Chronic constipation, Hepatomegaly, Increased circulating interleukin 6, Episcleritis, Increased ... OMIM:256040
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dysphagia, Gastroesophageal reflux, Neutropenia OMIM:615471
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Bronchi... ORPHA:391487
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... ORPHA:77297
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenomegaly, ... OMIM:615688
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:617062
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocytopenia, Pancytopenia, Thro... OMIM:227645
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Lymphadenopathy, Retroperitoneal fibrosis, Increased circula... ORPHA:449563
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Bloom Syndrome
Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Decreased c... ORPHA:125
Myeloma, Multiple
Paraproteinemia OMIM:254500
Zika Virus Disease
Infectious encephalitis, Vomiting, Arthritis, Increased circulating IgM level, Maculopapular exan... ORPHA:448237
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Infectious encephalitis, Cryoglobulinemia, Pneumonia, En... ORPHA:781
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Decreased mean platelet volume, Intermittent thrombocyto... OMIM:313900
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Trichothiodystrophy
Keratoconjunctivitis sicca, Eczema, Neutropenia, Anemia, Panhypogammaglobulinemia, Increased mean... ORPHA:33364
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Decreased T... OMIM:242840
Fanconi Anemia, Complementation Group D2
Neutropenia, Annular pancreas, Leukemia, Bone marrow hypocellularity, Anemia, Patent ductus arter... OMIM:227646
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Increased circulating IgA lev... ORPHA:79078
Pediatric-Onset Graves Disease
Hepatomegaly, Episcleritis, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, K... ORPHA:525731
Glycogen Storage Disease Ib
Hepatomegaly, Neutropenia, Hepatocellular carcinoma, Gout, Pancreatitis OMIM:232220
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Bloody diarrhea, Lung abscess, Protracted diarrhea, Acut... ORPHA:67
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Hereditary Chronic Pancreatitis
Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Alveolar Echinococcosis
Cholangitis, Biliary cirrhosis, Pancreatic cysts, Vomiting, Abnormality of mesentery morphology, ... ORPHA:284
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Malar... OMIM:210900
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Decreased circulating IgA level, Decreased circulating IgG level, Recurr... OMIM:615577
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Myositis, Lymphadenopathy, Fasciitis, Arthriti... ORPHA:32960
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Cirrhosis, Hepatosp... ORPHA:228426
Pearson Syndrome
Hepatomegaly, Dysphagia, Neutropenia, Macronodular cirrhosis, Bone marrow hypocellularity, Anemia... ORPHA:699
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Pustule, Stomatitis, Abscess, Splenomegaly, Osteomyelitis, Neutrophilia, Skin rash OMIM:612852
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Nk-Cell Enteropathy
Increased T cell count, Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation ORPHA:263665
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... ORPHA:343
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Anemia, Congenital thrombocytopenia OMIM:618886
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Inflammation of the large intestine, Hepatocellular carcinoma,... ORPHA:79259
Rothmund-Thomson Syndrome
Neutropenia, Vomiting, Leukemia, Anemia, Malar rash, Skin rash, Diarrhea, Aplastic anemia ORPHA:2909
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Erythroderma, Pustule, Increased circulating IgE level, Blepharitis OMIM:614328
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Pneumonia, Neutrophilia, Acute infectious pneumonia ORPHA:36238
Toxic Epidermal Necrolysis
Dysphagia, Neutropenia, Anemia, Pancreatitis, Gastrointestinal hemorrhage, Thrombocytopenia, Conj... ORPHA:537
Shigellosis
Myocarditis, Leukocytosis, Bloody mucoid diarrhea, Bloody diarrhea, Splenic abscess, Pneumonia, P... ORPHA:810
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Osteomyelitis, Increased circulating IgE level, Skin rash, Eosinoph... ORPHA:2314
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Bronchiectasis, Anemia, Acute myeloid leukemia, Steatorrhea OMIM:601347
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Vomiting, Nausea, Hepatic fibrosis, ... ORPHA:53035
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Decr... ORPHA:79329
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Increased circulating m... ORPHA:36234
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Diarrhea ORPHA:188
Cartilage-Hair Hypoplasia
Hepatomegaly, Neutropenia, Decreased circulating antibody level, Anemia, Abnormality of the pancreas ORPHA:175
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Igg4-Related Thyroid Disease
Dysphagia, Retroperitoneal fibrosis, Increased circulating IgG4 level, Thyroiditis, Hashimoto thy... ORPHA:64744
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Anemia, Splenomeg... OMIM:612301
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Mogs-Cdg
Hepatomegaly, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circula... ORPHA:79330
Leigh Syndrome
Anemia, Eczema, Neutropenia, Dysphagia ORPHA:506
Secondary Intestinal Lymphangiectasia
Constrictive pericarditis, Vomiting, Decreased circulating IgA level, Decreased circulating antib... ORPHA:90363
Alg12-Cdg
B lymphocytopenia, Complete or near-complete absence of specific antibody response to tetanus vac... ORPHA:79324
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to ... ORPHA:508533
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased circulating IgA level, Decrea... OMIM:212065
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Vomiti... ORPHA:330015
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Leukocytosis, Portal hypertension, Hepato... ORPHA:480520
X-Linked Intellectual Disability, Nascimento Type
Chronic constipation, Neutropenia, Patent ductus arteriosus, Recurrent cutaneous abscess formation ORPHA:163956
Immunodeficiency 43
Decreased circulating IgG level, Bronchiectasis OMIM:241600
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Posterior uveitis, Normocytic anemia, Normochro... ORPHA:91500
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Leukocytosis, Hepatomegaly, Recurrent otitis media, Anemia, Kera... ORPHA:99843
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Portal fibrosis, Splenomegaly, Hepatosplenomegaly, Eosinophilia, Inflammator... ORPHA:3260
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Rothmund-Thomson Syndrome Type 1
Neutropenia, Vomiting, Leukemia, Anemia, Diarrhea, Aplastic anemia ORPHA:221008
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Stomatitis, Megaloblastic anemia, Thrombocytopenia, Jaundice ORPHA:79282
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Vo... ORPHA:90038
Cohen Syndrome
Neutropenia ORPHA:193
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... ORPHA:3132
Caffey Disease
Increased circulating antibody level ORPHA:1310
Cogan Syndrome
Thrombocytosis, Leukocytosis, Episcleritis, Anemia, Keratitis, Uveitis, Inflammatory abnormality ... ORPHA:1467
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Leukocytosis, Rectal abscess, Osteomyelitis OMIM:116920
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Rothmund-Thomson Syndrome Type 2
Neutropenia, Vomiting, Leukemia, Anemia, Diarrhea, Aplastic anemia ORPHA:221016
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Neutropenia ORPHA:79430
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Vomiting, Nausea, Hematemesis, Neutrophilia, I... ORPHA:99829
Marburg Hemorrhagic Fever
Bloody diarrhea, Pericarditis, Thrombocytopenia, Leukopenia, Vomiting, Neutrophilia in presence o... ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Decreased circulating IgG level, Bone marrow hypocellularity, Anemia, Patent ductus a... ORPHA:505248
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Impaired platelet aggregation, Conjunctivitis, Leukocyt... ORPHA:2968
Dubowitz Syndrome
Eczema, Acute lymphoblastic leukemia, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:223370
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation, Myositis ORPHA:764
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Pneumonia, Rhiniti... ORPHA:95455
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Inflammation of the large intestine, Mediastinal lymphadenopathy, Bronchiectasis, A... OMIM:181000
Poems Syndrome
Polycythemia, Thrombocytosis, Increased circulating antibody level, Lymphadenopathy ORPHA:2905
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Chronic sinusitis, A... ORPHA:420741
Lysinuric Protein Intolerance
Hepatomegaly, Tubulointerstitial nephritis, Leukopenia, Vomiting, Membranous nephropathy, Decreas... ORPHA:470
Al Amyloidosis
Hepatomegaly, Dysphagia, Xerostomia, Anemia, Gastroparesis, Abnormality of the liver, Gastrointes... ORPHA:85443
Aspartylglucosaminuria
Hepatomegaly, Neutropenia, Vacuolated lymphocytes, Acne, Diarrhea OMIM:208400
Gaucher Disease Type 3
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Pancytopenia, Thrombocy... ORPHA:77261
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Leukocytosis, Increased circulating interleukin 6, Bloody diarrhea, P... ORPHA:544482
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Increased ... ORPHA:186
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Japanese Encephalitis
Infectious encephalitis, Vomiting, Neutrophilia, Increased circulating antibody level, Increased ... ORPHA:79139
Urachal Cyst
Leukocytosis, Abscess, Peritonitis ORPHA:488
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia, Neutropenia ORPHA:93357
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Transient neutropenia ORPHA:500095
Kawasaki Disease
Myocarditis, Leukocytosis, Pericarditis, Cheilitis, Hepatitis, Arthritis, Jaundice, Skin rash, Ch... ORPHA:2331
Viss Syndrome
Atopic dermatitis, Eczema, Dysphagia, Decreased circulating IgA level, Increased circulating IgG ... OMIM:619472
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level, Chronic diarrhea, Inte... OMIM:601675
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... ORPHA:48435
Gaucher Disease
Hepatomegaly, Dysphagia, Hepatitis, Anemia, Splenomegaly, Osteomyelitis, Cirrhosis, Increased cir... ORPHA:355
Sarcoidosis
Keratoconjunctivitis sicca, Portal hypertension, Hepatomegaly, Tubulointerstitial nephritis, Leuk... ORPHA:797
Encephalitis Lethargica
Bowel incontinence, Increased circulating antibody level ORPHA:83600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Cysticercosis
Increased circulating antibody level, Infectious encephalitis, Iridocyclitis ORPHA:1560
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysphagia, Patent ductus arteriosus after birth at term, Secretory IgA deficiency, Decreased circ... ORPHA:500150

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 Lgals2

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 Lgals2.

No publications found that use IMPC mice or data for Lgals2.

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MGI Allele Allele Type Produced
Lgals2tm215009(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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