Gene Summary

Name:
differentially expressed in FDCP 6
Synonyms:
SLAT,  IRF-4-binding protein,  IBP,  6430538D02Rik,  2410003F05Rik

IMPC Data Collections

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.

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Legacy Phenotype Associated Images

View all 87 images

Human diseases caused by Def6 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.

The table below shows human diseases associated to Def6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Jaundice, Anticardiolipin IgG antibody positivity, Abn... OMIM:619573

The table below shows human diseases predicted to be associated to Def6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 64 With Lymphoproliferation
Anti-thyroid peroxidase antibody positivity, Decreased lymphocyte proliferation in response to mi... OMIM:618534
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Autoimmune Lymphoproliferative Syndrome
Antiphospholipid antibody positivity, Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegal... OMIM:601859
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Fluctuating sp... OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... OMIM:615513
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Decreased circulating total IgM, Hepatomegaly OMIM:606445
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Antinuclear antibody positivity, S... OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Au... OMIM:614470
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Rheumatoid factor positive, Lymphaden... OMIM:209950
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, B lymphocytopenia, Anti-bet... OMIM:618048
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Complete o... OMIM:607271
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Decreased lymphocyte proliferation in response to mitogen, Increased circulati... ORPHA:169154
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Anti-thyroid peroxidase antibody positivity, T lymphocytopenia, B lympho... ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... OMIM:619632
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG level OMIM:233650
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp... OMIM:618261
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... OMIM:300853
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Decreased circulating IgA level, Increas... OMIM:608106
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Autoimmunity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune h... ORPHA:444463
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... ORPHA:276
Immunodeficiency, Common Variable, 2
Autoimmunity, Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circul... OMIM:240500
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... OMIM:301082
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Reduced natural killer cell activity, Decreased circulating antibody level, Fulminant hepatitis, ... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... ORPHA:3261
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Autoimmunity,... ORPHA:169079
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Perinuclear antineutrop... OMIM:618394
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Autoimmunity, Pancytopenia, Autoimmune ... OMIM:613011
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Decreased circula... OMIM:612692
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-U1 ribonucleoprotein antibody positivity, Decreased proportion of marginal zone B cells, Coo... OMIM:619375
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly ORPHA:37748
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Antinuclear antibody positivity, Autoimmune hemolytic anemia, Increased circul... OMIM:617388
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Antineutrophil antibody positivi... OMIM:301078
Autoinflammation With Episodic Fever And Lymphadenopathy
Rheumatoid factor positive, Lymphadenopathy, Hepatomegaly, Antinuclear antibody positivity, Splen... OMIM:618852
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Cytoplasmic antineutrophil antibody positivity, Increased circulating IgG lev... OMIM:615934
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Anti-liver cytosolic antige... ORPHA:2137
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... OMIM:613101
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:615767
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Thrombocy... ORPHA:83313
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Absent circulating B cell... OMIM:613501
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec... OMIM:615592
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibody positivi... ORPHA:449400
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Agammaglobulinemia, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Chilblain Lupus
Chronic myelomonocytic leukemia, Increased circulating antibody level, Rheumatoid factor positive... ORPHA:90280
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:228312
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Increased circulating IgE lev... OMIM:243700
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, ... OMIM:226990
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Granuloma, Anti-liver cytosolic antigen type 1 antibody pos... ORPHA:562639
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased circulating total IgM, T lymphocytopenia, Lymphopeni... OMIM:619510
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... ORPHA:411593
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Complete or near-complete absen... OMIM:613494
Whim Syndrome 1
Decreased circulating antibody level, Neutropenia, Decreased circulating IgG level OMIM:193670
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Complet... OMIM:301081
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cell... ORPHA:443811
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune hemolytic anemia, Absence of lymph node germin... OMIM:608184
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Neutropenia, B lymphocytopenia, Absent circulating B cells, Decr... OMIM:619705
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Pancyto... ORPHA:507
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... OMIM:615122
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Decreased proportion of CD4-positive T cells, Hep... OMIM:301045
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased circulating antibody level,... ORPHA:449432
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Ap... OMIM:300635
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Lymphopenia, Absen... OMIM:600802
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Juvenile rheumatoid arthritis, Autoimmunity, Hashimoto thyroiditis, Decreased circulating IgA lev... ORPHA:275
Tempi Syndrome
Increased hematocrit, Ascites, Increased circulating IgG level, Polycythemia ORPHA:284227
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM, Eosinophilia OMIM:617638
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:614069
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Autoimmunity, Decreased circulating IgE, Decreased circu... OMIM:615758
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... ORPHA:3392
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Increased circulating IgE level, Rheumatoid factor positive, Eosin... OMIM:615816
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... OMIM:102700
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis, Decreased circulating complement C3 concentration, Autoimmunity ORPHA:79087
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Anti-glutamic acid decarboxylase antibody positivity, Hepatitis, Coombs-positive hemolyti... OMIM:304790
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Autoimmunity, Pancytopenia, Lymphopen... OMIM:617780
Reticular Dysgenesis
Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Lymphopeni... OMIM:619752
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Decreased circulating antibody level, Pancytopenia, Abnormally low T cell receptor excision circl... OMIM:619767
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Immunodeficiency 67
Liver abscess, Increased circulating IgE level, Transient neutropenia OMIM:607676
Immunodeficiency 7
Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neut... OMIM:615387
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Rh... OMIM:618935
Multiple Myeloma
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, I... ORPHA:29073
Sézary Syndrome
Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte m... ORPHA:3162
Immunodeficiency By Defective Expression Of Mhc Class Ii
Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation in response... ORPHA:572
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating IgG2 level, Decreased circulating IgG4 level, Decreased... OMIM:300310
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Decreased circulating total IgM, B lymphocytopenia, Generalize... OMIM:614700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Felty Syndrome
Neutropenia, Splenomegaly, Rheumatoid arthritis OMIM:134750
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Decreased lymphocyte proliferation in response to ... ORPHA:911
Selective Igm Deficiency
Lymphadenitis, Decreased circulating total IgM, Rheumatoid arthritis, Neutropenia in presence of ... ORPHA:331235
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Gamma-Heavy Chain Disease
Anemia, Rheumatoid arthritis, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... ORPHA:100026
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, ... ORPHA:540
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Monoclonal elevation of IgG,... ORPHA:91139
Griscelli Syndrome
Leukopenia, Decreased circulating antibody level, Hepatitis, Jaundice, Abnormality of neutrophils... ORPHA:381
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Decreased circulating antibody level, Neutropenia in presence of anti-neutropil antibodies, Autoi... OMIM:615952
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Increased circulating IgE level, Eosinophilia OMIM:618523
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombo... OMIM:617591
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Hyper-Igd Syndrome
Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy... OMIM:260920
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Autoimmunity, Leukocytosis, Increased circulating IgE level ORPHA:2902
Prolidase Deficiency
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Systemic lupus erythem... OMIM:170100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating total IgM, Decreased circulating IgG level OMIM:300861
Iga Pemphigus
Monoclonal elevation of circulating IgA, Cutaneous abscess, Autoimmune antibody positivity, Incre... ORPHA:555905
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegaly, Lymp... OMIM:242700
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Cutaneous abscess, Eosinophilia OMIM:147060
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Q Fever
Anemia, Abnormality of the liver, Increased circulating antibody level, Granuloma, Hepatitis, Ant... ORPHA:781
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, Panhypogammaglobulinemia, T lymphocytopenia, Ascites,... ORPHA:79124
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Th... OMIM:616050
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Decreased ... ORPHA:543
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Primary Myelofibrosis
Anemia, Pancytopenia, Autoimmune antibody positivity, Hepatosplenomegaly, Poikilocytosis, Lymphad... ORPHA:824
Myeloma, Multiple
Paraproteinemia OMIM:254500
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Decreased... OMIM:275350
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Agammaglobulinemia, Absent circulating B cells OMIM:619693
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... ORPHA:86843
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arth... ORPHA:48377
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Brucellosis
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce... ORPHA:1304
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Retroperitoneal fibrosis, Anti-thyroid peroxidase antibody posi... ORPHA:64744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Decreased circulating IgA level, Increased ... OMIM:242860
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly OMIM:620010
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Immunodeficiency 47
Leukopenia, Chronic decreased circulating total IgG, Hepatic fibrosis, Cirrhosis, Decreased circu... OMIM:300972
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia, Rheumatoid arthritis ORPHA:48104
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Leukopenia, Biliary cirrhosis, Enlarged ... ORPHA:2298
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Immunodeficiency 17
Chronic decreased cirulating IgG2, T lymphocytopenia, Abnormal B cell morphology, Decreased propo... OMIM:615607
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:2584
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Pancytopenia,... ORPHA:77259
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Thymic Tumor
Neoplasm of the thymus, Autoimmunity, Mediastinal lymphadenopathy, Dysgammaglobulinemia ORPHA:100100
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Retroperitoneal fibrosis, Cytoplasmic antineutrophil antibody p... ORPHA:79078
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Autoimmunity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Autoimmunity, Pancytopenia, Hemophagocytosis, Splenomegaly OMIM:618398
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Autoimmunity, Paraproteinemia, Decreased circu... ORPHA:329918
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... ORPHA:79301
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hepatomegaly, Splenomegaly OMIM:613313
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Igg4-Related Kidney Disease
Lymphadenitis, Decreased circulating complement C3 concentration, Increased circulating IgG4 leve... ORPHA:449395
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Omenn Syndrome
Anemia, Autoimmunity, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Ab... ORPHA:39041
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Immunodeficiency 54
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:609981
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Anti-thyroid peroxidase antibody positivity, Decreased circulati... OMIM:615577
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Autoimmunity... OMIM:243150
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Autoimmune Hemolytic Anemia
Splenomegaly, Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia ORPHA:98375
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... ORPHA:1572
Igg4-Related Pachymeningitis
Lymphadenitis, Increased circulating IgG4 level, Pancreatitis, Eosinophilia, Complement deficiency ORPHA:449427
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly ORPHA:172
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Cutaneous abscess, Decreased circulating IgA level, Eosinophilia, Increased circ... OMIM:618282
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Cholestatic liver disease, Increased circulating... ORPHA:400
Good Syndrome
Thymoma, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Mediasti... ORPHA:169105
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus e... ORPHA:90033
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly OMIM:619658
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Felty Syndrome
Anemia, Autoimmunity, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:47612
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Neoplasm of the liver, Autoimmune antibody positivity, Bili... ORPHA:90003
Coccidioidomycosis
Abnormality of the liver, Granuloma, Peritonitis, Lymphadenopathy, Increased circulating IgM leve... ORPHA:228123
Thymoma
Anti-acetylcholine receptor antibody positivity, Rheumatoid arthritis, Decreased circulating anti... ORPHA:99867
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Increased circulating IgA l... OMIM:300291
Tick-Borne Encephalitis
Leukopenia, Abnormality of serum cytokine level, Increased circulating IgM level, Leukocytosis, T... ORPHA:297
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... OMIM:616084
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, ... ORPHA:829
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Splenomeg... OMIM:612301
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly OMIM:214900
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Rheumatoid... ORPHA:227990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Insulin receptor antibody positivity, Anti-thyroid peroxidase antibody positivity, Reduced propor... ORPHA:37042
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased circulating total IgM, Reduced natural killer cell acti... OMIM:301000
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Rift Valley Fever
Anemia, Hepatitis, Jaundice, Increased circulating IgM level, Thrombocytopenia, Increased circula... ORPHA:319251
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Peritonitis, Increased circulating IgA level, Hepatomegaly ORPHA:343
Mevalonic Aciduria
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph... OMIM:610377
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Neutropenia, Increased circulating IgA level, Lymphopenia OMIM:616395
Igg4-Related Ophthalmic Disease
Increased circulating IgG4 level, Retroperitoneal fibrosis, Cholangitis, Increased circulating Ig... ORPHA:449563
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Neutropenia, B lymphocytopenia, Decreased circulating antibody level, R... OMIM:601495
Ebola Hemorrhagic Fever
Leukopenia, Increased circulating antibody level, Hepatitis, Lymphopenia, Acute pancreatitis, Thr... ORPHA:319218
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating antibody level, Increase... OMIM:256040
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Rheumatoid... ORPHA:227982
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly OMIM:231000
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG2 level, Acute lymphoblasti... OMIM:208900
Cholesteryl Ester Storage Disease
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly ORPHA:75234
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Mogs-Cdg
Decreased circulating total IgM, Decreased circulating antibody level, Left ventricular hypertrop... ORPHA:79330
Hereditary Orotic Aciduria
Patent ductus arteriosus, Anemia, Impaired T cell function, Splenomegaly ORPHA:30
Mucopolysaccharidosis-Plus Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Enlarged kidney, Macrovesicular hepatic steatosis, ... OMIM:617303
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Caffey Disease
Increased circulating antibody level ORPHA:1310
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytopenia, De... OMIM:313900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612526
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Crimean-Congo Hemorrhagic Fever
Leukopenia, Hemoperitoneum, Jaundice, Neutrophilia, Pancytopenia, Acute pancreatitis, Lymphadenop... ORPHA:99827
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... OMIM:618278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Lupus anticoagulant, Hepatosplenomegaly... OMIM:615688
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased circulating total IgM, Rheumatoid arthritis, Liver abs... ORPHA:183675
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Abnormal cytokin... ORPHA:158048
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Autoimmunity, Pancytopenia, Hashimoto thyroiditis, Decreased circulatin... OMIM:613385
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pancytopenia, Hepatosplenomeg... OMIM:603553
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Autoimmune antibody positivity, ... ORPHA:398124
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Autoimmunity, Hepatocellular... ORPHA:186
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Jaundice, Hepatic steatosis, Hepatomegaly, Chol... ORPHA:567983
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Abnormal T cell subset distribution, Reduced natural killer cell count, Decreased circulating tot... ORPHA:221139
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly, Iron deficiency anemi... OMIM:226300
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia, Decreased circulating antibody level ORPHA:2268
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... OMIM:603903
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Reduction of neutrophil motility, Abnormally low T ... OMIM:608203
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Wolman Disease
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Alveolar Echinococcosis
Pancreatic cysts, Anemia, Biliary cirrhosis, Increased circulating antibody level, Liver abscess,... ORPHA:284
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Autoimmunity, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... ORPHA:90045
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233710
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level OMIM:618165
Cryoglobulinemic Vasculitis
Abnormality of the liver, Cryoglobulinemia, Circulating immune complexes, Viral hepatitis, Hepato... ORPHA:91138
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Elevated hepatic ... ORPHA:231222
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... OMIM:608233
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... OMIM:612714
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233690
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Vici Syndrome
Leukopenia, Decreased T cell activation, T lymphocytopenia, Decreased circulating IgG2 level, Lef... OMIM:242840
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Patent ductus arteriosus, Anemia, Hepatic fibrosis, Decreased circulating total IgM, Exocrine pan... OMIM:620005
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice OMIM:611804
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, De... OMIM:619381
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Autoimmune antibody positivity, Hepatomegaly ORPHA:3386
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... OMIM:214500
Aspergillosis
Hepatitis, Neutropenia, Increased circulating IgE level, Eosinophilia ORPHA:1163
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating total IgM, Anemia, Decreased circulating I... OMIM:620040
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Pancreatitis, Autoimmunity, Abnormal eosinophil... ORPHA:171
Poems Syndrome
Increased circulating antibody level, Polycythemia, Lymphadenopathy, Thrombocytosis, Visceromegal... ORPHA:2905
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Jaundice, Hepatomegaly, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Nodular Non-Suppurative Panniculitis
Autoimmunity, Splenomegaly, Hepatomegaly ORPHA:33577
Waldenström Macroglobulinemia
Splenomegaly, Normocytic anemia, Cryoglobulinemia, Abnormality of neutrophils, Lymphadenopathy, H... ORPHA:33226
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic stools, Portal fibrosis, ... OMIM:617394
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Perinuclear antineutrophil antibody positivity, Lymphadenopathy, Cervical lymphade... OMIM:617718
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Immunodeficiency 59 And Hypoglycemia
Decreased circulating antibody level, Complete or near-complete absence of specific antibody resp... OMIM:233600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased circulating total IgM, Decreased lymphocyte proliferation in respons... ORPHA:508533
Immunodeficiency 31C
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:614162
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating total IgM, Decreased circulating antibody level, Autoimmunity, L... ORPHA:90363
Sitosterolemia 1
Stomatocytosis, Anemia, Impaired platelet aggregation, Reticulocytosis, Episodic hemolytic anemia... OMIM:210250
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Bloom Syndrome
Acute myeloid leukemia, Decreased circulating total IgM, Decreased circulating antibody level, Ab... ORPHA:125
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Lead Poisoning
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased circulating IgE le... ORPHA:330015
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Hepatomegaly OMIM:201100
Alg12-Cdg
Abnormal circulating IgG level, Patent ductus arteriosus, Complete or near-complete absence of sp... ORPHA:79324
Gaucher Disease Type 3
Anemia, Increased circulating antibody level, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splen... ORPHA:77261
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Glycogen Storage Disease Ixc
Cirrhosis, Increased hepatic glycogen content, Bile duct proliferation, Hepatomegaly, Splenomegaly OMIM:613027
Hereditary Elliptocytosis
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... ORPHA:288
Essential Thrombocythemia
Abnormal platelet morphology, Splenomegaly, Acute leukemia ORPHA:3318