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Gene: Lat2 MGI:1926479

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
linker for activation of T cells family, member 2
Synonyms:
Wbscr15,  Wbscr5

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 Lat2 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 Lat2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa... OMIM:269840
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymph... OMIM:240500
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Abnormal natural killer c... OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... ORPHA:411593
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, G... OMIM:618986
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy, Increased... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... OMIM:618394
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... ORPHA:331206
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphati... OMIM:616005
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul... ORPHA:37748
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... OMIM:619632
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... OMIM:602450
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuc... OMIM:619375
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... OMIM:301078
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni... OMIM:613011
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In... ORPHA:98813
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Decreased circula... OMIM:620210
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, ... ORPHA:158061
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthe... ORPHA:540
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Impaired T cell functio... OMIM:613179
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Autoimmune Hepatitis
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Diffuse hepatic steatosis, An... ORPHA:2137
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... OMIM:102700
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Ar... OMIM:617591
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, En... OMIM:616050
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Immunodeficiency 40
Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo... OMIM:616433
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn... ORPHA:47612
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, Neutropen... ORPHA:443811
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Myocarditis, Le... ORPHA:829
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... ORPHA:85414
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Portal hypertension, Portal vein thrombosis, Hyperspleni... ORPHA:64743
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Immunodeficiency 22
Autoimmunity, Thrombocytopenia, Decreased circulating total IgM, Ascites, Decreased circulating I... OMIM:615758
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Decreased... ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Prolidase Deficiency
Hepatomegaly, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous ... OMIM:170100
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic anemia, Maculopapular exanthema... ORPHA:398124
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Q Fever
Hepatomegaly, Antiphospholipid antibody positivity, Rheumatoid factor positive, Anticardiolipin I... ORPHA:781
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... ORPHA:37042
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Leukop... ORPHA:77259
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Reduced natural killer ce... OMIM:608233
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom... OMIM:615688
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Bronchiectasis,... OMIM:619381
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent otitis media, Lymphop... OMIM:605309
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Sp... OMIM:603553
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn... OMIM:214500
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Abnormality of t... ORPHA:1304
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function OMIM:201100
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte physiology, Thro... ORPHA:1830
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis OMIM:612852
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Myocarditis, Spleno... ORPHA:809
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... ORPHA:169090
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundice, Cholecystitis, Cirrhosis,... ORPHA:131
Nodular Non-Suppurative Panniculitis
Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Hepatomegaly ORPHA:33577
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Iridoc... OMIM:181000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... ORPHA:544482
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ... ORPHA:32960
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth... OMIM:249100
Vici Syndrome
Lymphopenia, Left ventricular hypertrophy, Decreased circulating IgG2 level, Decreased T cell act... OMIM:242840
Adult Acute Respiratory Distress Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:70578
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Thrombocytopenia, Spl... ORPHA:50918
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
22Q11.2 Deletion Syndrome
Autoimmunity, Impaired T cell function, Abnormality of the tonsils, Splenomegaly, Hypoplasia of t... ORPHA:567
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly, Recurrent ... OMIM:188400
Progeroid Short Stature With Pigmented Nevi
Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function OMIM:176690
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly OMIM:612132

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 Lat2

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 Lat2.

No publications found that use IMPC mice or data for Lat2.

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MGI Allele Allele Type Produced
Lat2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Lat2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lat2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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