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Gene: Blnk MGI:96878

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Gene Summary

Name:
B cell linker
Synonyms:
Ly57,  BLNK,  Ly-57,  Bca,  BCA,  BASH,  SLP-65

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased leukocyte cell number Blnkem1(IMPC)H HOM Early adult 6.81×10-10
decreased lymphocyte cell number Blnkem1(IMPC)H HOM Early adult 2.83×10-11
decreased spleen weight Blnkem1(IMPC)H HOM Early adult 4.94×10-11
decreased basophil cell number Blnkem1(IMPC)H HOM Early adult 2.79×10-05
small spleen Blnkem1(IMPC)H HOM Early adult 0.00
increased neutrophil cell number Blnkem1(IMPC)H HOM Early adult 1.72×10-07
increased eosinophil cell number Blnkem1(IMPC)H HOM Early adult 2.76×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Blnk 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 Blnk by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Autosomal Agammaglobulinemia
Verrucae, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M... OMIM:153600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... OMIM:618459
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity, Abnormal T cell count, ... OMIM:613495
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Immunodeficiency 88
Eosinophilia OMIM:619630
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Hodgkin lymphoma, Impaired lymphocyte transformation with phytohemag... OMIM:236000
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc... OMIM:614470
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Verruca... OMIM:618969
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity OMIM:609529
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... OMIM:619281
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Immunodeficiency 102
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Partial absence of speci... OMIM:301082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, B-cell lymphoma, Increased proportion of transitio... OMIM:616005
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Perinuclear antineutrophil ant... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Lymphoma, Bone marrow hypocellularity, Leukopenia, Sys... OMIM:616871
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti... ORPHA:331206
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... OMIM:619510
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Multiple lineage... ORPHA:98827
Myeloperoxidase Deficiency
Diminished neutrophil myeloperoxidase activity OMIM:254600
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of infection, Increased ... ORPHA:98813
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Antiphospholipid antibody pos... ORPHA:90280
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:601859
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Immunodeficiency 61
Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level OMIM:300310
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia OMIM:619773
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... OMIM:615592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Follicular hyperp... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Decreased CD4... OMIM:300853
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Fanconi Anemia, Complementation Group G
Anemia, Leukemia, Thrombocytopenia, Myelodysplasia, Neutropenia OMIM:614082
Immunodeficiency 25
Autoimmune hemolytic anemia, Anti-smooth muscle antibody positivity, Increased circulating IgG le... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Splenomegaly, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, B-cell lymphoma, Neoplasm of the skin, Neopl... ORPHA:3261
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... OMIM:619752
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestin... ORPHA:99867
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616910
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 22
Anemia, Decreased circulating IgE, Autoimmunity, Decreased circulating IgG level, Decreased propo... OMIM:615758
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Refractory anemia with ringed sideroblasts, Bone marr... ORPHA:318
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of... OMIM:102700
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymp... OMIM:602450
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... OMIM:614700
Immunodeficiency 9
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... OMIM:612782
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly ORPHA:100025
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, Anti-glutamic acid decarboxylase antibody positi... OMIM:620044
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia... ORPHA:486
N Syndrome
Leukemia, Neoplasm OMIM:310465
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration OMIM:618999
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia OMIM:252270
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Combined Immunodeficiency Due To Dock8 Deficiency
Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocytopenia, Increased circu... ORPHA:217390
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Myelod... OMIM:619151
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Thrombocytosis, Sclerosing cholangitis, Decreased pr... OMIM:619652
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... OMIM:617780
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Pyoderma Gangrenosum
Rheumatoid arthritis, Increased circulating antibody level, Myelodysplasia, Myeloid leukemia ORPHA:48104
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa... ORPHA:169160
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Rheumatoid factor positiv... OMIM:209950
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:605724
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Immunodeficiency 46
Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Ataxia-Telangiectasia
Hypoplasia of the thymus, Lymphoma, T lymphocytopenia, Decreased circulating IgG level, Acute lym... OMIM:208900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Decre... ORPHA:331235
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased p... OMIM:301045
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Primary Erythromelalgia
Leukemia ORPHA:90026
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Squamous cell carcinoma, Increased circulating IgG level, Increased circu... OMIM:243700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce... OMIM:614742
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Anti-dsDNA ... OMIM:619375
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly... ORPHA:39041
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Reticular Dysgenesis
Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor... ORPHA:33355
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Lymphoma, Increased circulating IgM level, S... ORPHA:37748
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Nut Midline Carcinoma
Squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinoma, Ewing sarcoma, Neurobla... ORPHA:443167
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... OMIM:275350
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... OMIM:615952
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs... OMIM:150550
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy ORPHA:52416
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased... ORPHA:276
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Roifman Syndrome
Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:616651
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... OMIM:601495
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Verrucae, Decreased circulating IgG level, Hashimot... ORPHA:275
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Sclerosing cholangitis, Neut... ORPHA:572
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto... ORPHA:2686
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... ORPHA:221139
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Jaundice, Increas... OMIM:620376
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Systemic lupus e... ORPHA:90033
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG le... OMIM:620603
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Dyskeratosis Congenita, Digenic
Basal cell carcinoma, Anemia, Squamous cell carcinoma of the skin, Melanoma, Decreased circulatin... OMIM:620040
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Bloom Syndrome
Esophageal neoplasm, Acute myeloid leukemia, Recurrent tonsillitis, Decreased proportion of CD4-p... ORPHA:125
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Ependymom... OMIM:276300
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia OMIM:616576
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Secondary Intestinal Lymphangiectasia
Cirrhosis, B-cell lymphoma, Decreased circulating antibody level, Lymphoma, Lymphopenia, Decrease... ORPHA:90363
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly OMIM:617388
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Neoplasm, Lymphopenia ORPHA:100
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Splenic cyst, Abn... ORPHA:400
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency, Common Variable, 10
Anti-thyroglobulin antibody positivity, Anti-thyroid peroxidase antibody positivity, Decreased ci... OMIM:615577
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, Accessory spleen, Portal hypertension, Decreased circulating Ig... OMIM:620005
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Neoplasm of the skin, Abnormal lymp... ORPHA:3162
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,... ORPHA:91139
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th... ORPHA:83313
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Lymphoma, Cryoglobulinemia, Splenomegaly, Monoc... ORPHA:33226
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg... OMIM:243150
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma ORPHA:281090
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Hepatitis, Lymphadenopathy ORPHA:139402
Icf Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia ORPHA:2268
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Reduced circulating comple... ORPHA:449400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Storage Pool Platelet Disease
Acute leukemia, Myelodysplasia, Decreased mean platelet volume OMIM:185050
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Bloom Syndrome
Squamous cell carcinoma, Lymphoma, Decreased circulating IgG level, Elevated hemoglobin A1c, Decr... OMIM:210900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... OMIM:242860
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Myelodysplasia ORPHA:721
Mirage Syndrome
Anemia, Patent ductus arteriosus, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia OMIM:617053
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Aspergillosis
Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Cholangitis, Recurrent tonsillitis, Lymphoma, Decreased specific pneumococcal anti... ORPHA:183675
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Jaundice, Anemia, Hepatomegaly, Panhypogamma... ORPHA:79124
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, B-cell lymphoma, Dec... OMIM:619381
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency 12
Complete or near-complete absence of specific antibody response to tetanus vaccine, Abnormal lymp... OMIM:615468
Hemochromatosis, Type 3
Cirrhosis, Neutropenia, Anemia, Lymphopenia OMIM:604250
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoce... ORPHA:381
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Lymphopenia OMIM:617425
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Lymphoma ORPHA:99812
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Decreased circulating IgG level, Hepatospleno... ORPHA:79330
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Antiphospholipid antibody positivity, Increased circulating IgG level, Increased circulat... OMIM:615934
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Lymphoma, Gastrointestinal stroma tumor, S... ORPHA:1572
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Decreased proportion of class-switched memory B cells, Complete or near-complete ab... OMIM:233600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Capillary hemangioma, Increased circu... ORPHA:508533
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Sweet Syndrome
Anemia, Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Chronic lympha... ORPHA:3243
Alveolar Echinococcosis
Liver abscess, Anemia, Jaundice, Cholangitis, Abnormal spleen morphology, Biliary cirrhosis, Port... ORPHA:284
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocytopenia, Neopla... ORPHA:47
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia OMIM:618165
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr... ORPHA:54251
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia OMIM:605309
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Microcytic an... OMIM:619750
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentratio... OMIM:615010
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... ORPHA:906
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Hepatomegaly, Anemia, Acute myeloid leukemia, Macrocytic anem... ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Tumor Predisposition Syndrome 2
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... OMIM:619975
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Biliary tract abnormali... OMIM:209920
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Anti-smooth muscle antibody positivity, Anti-liver cytosoli... ORPHA:562639
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Netherton Syndrome
Hypereosinophilia OMIM:256500
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Turcot Syndrome With Polyposis
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ... ORPHA:99818
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly, Neoplasm ORPHA:172
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Abnormal circulating cytokine concentration, Jaundice, Anemia, Hemopha... ORPHA:540
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Abnormality of the pancreas, Lymphopenia ORPHA:935
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Patent ductus arteriosus ORPHA:404443
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... OMIM:260400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Bone marrow hypocellularity, Splenomegaly, Neoplasm ORPHA:391
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukemia,... OMIM:227645
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Abnormal erythrocyte enzyme concentration or activity ORPHA:100924
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... ORPHA:293978
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Lymphoproliferati... OMIM:609981
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Myeloproliferati... ORPHA:3260
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Myelodysplasia, Leukemia OMIM:619951
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:600901
Autosomal Agammaglobulinemia
Verrucae, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Cowden Syndrome 1
Carcinoma, Decreased circulating antibody level, Breast carcinoma, Hamartomatous polyposis, Trans... OMIM:158350
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomegaly ORPHA:545
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Lig4 Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Myelodysplasia, Pancytopenia OMIM:606593
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count, Reduced ... OMIM:616050
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia OMIM:227650
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Autoimmune Hepatitis
Cirrhosis, Anti-smooth muscle antibody positivity, Jaundice, Increased circulating antibody level... ORPHA:2137
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Hypoplastic spleen, Polysplenia OMIM:620642
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin... ORPHA:2035
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:607143
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Decreased circulating ... OMIM:226300
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocy... OMIM:227646
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Lambert Syndrome
Jaundice, Decreased circulating antibody level, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased circulating... ORPHA:158061
Late-Onset Isolated Acth Deficiency
Eosinophilia, Normocytic anemia, Hepatitis, Macrocytic anemia ORPHA:199299
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Tempi Syndrome
Increased circulating IgG level, Ascites, Hemangioma, Polycythemia, Increased hematocrit ORPHA:284227
Retinoblastoma
Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia OMIM:180200
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Decreased circulating IgA level OMIM:617744
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Rhabdomyosarcoma, B lymphocytopenia, Lymphoma,... OMIM:251260
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lupus anticoagulant, Lymphadenopathy, Pancytopenia, Decreased circulating a... OMIM:615688
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Whim Syndrome
Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, Cervix cance... ORPHA:51636
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Igg4-Related Pachymeningitis
Eosinophilia, Pancreatitis, Lymphadenitis ORPHA:449427
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449432
Tafro Syndrome
Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Lymphadenopathy, Leukocy... ORPHA:457077
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Dubowitz Syndrome
Aplastic anemia, Lymphoma, Neuroblastoma, Decreased circulating IgG level, Acute lymphoblastic le... OMIM:223370
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Cryptococcosis
Cirrhosis, Mediastinal lymphadenopathy, Peritonitis, Systemic lupus erythematosus, Lymphoid leuke... ORPHA:1546
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomega... OMIM:619644
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Neuroblastoma, Medulloblastoma, Nephroblastoma OMIM:610832
Coccidioidomycosis
Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Granuloma, Abnormality of the spleen,... ORPHA:228123
Rothmund-Thomson Syndrome
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel... ORPHA:2909
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Mel... ORPHA:221008
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Lymphoma, Glioma,... ORPHA:647
Retinoblastoma
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine... ORPHA:790
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Neoplasm of the skin, Lym... ORPHA:221016
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Squamous cell carcinoma, Pancytopenia, Carcinoma, Orop... OMIM:305000
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Down Syndrome
Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut... ORPHA:870
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Autoimmunit... OMIM:613385
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sp... OMIM:617591
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro... ORPHA:137605
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Mosaic Variegated Aneuploidy Syndrome 1
Embryonal rhabdomyosarcoma, Nephroblastoma, Leukemia OMIM:257300
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellularity, Increased ci... OMIM:617303
Incontinentia Pigmenti
Eosinophilia, Leukocytosis OMIM:308300
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Neurofibromatosis Type 1
Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Neoplasm of the gastrointestinal tract, ... ORPHA:636
Psoriasis 14, Pustular
Cholangitis, Neutrophilia, Leukocytosis OMIM:614204
Relapsing Fever
Jaundice, Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus OMIM:601186
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Patent ductus arteriosus, Glabellar hemangioma, T lymphocytopenia, Ha... OMIM:618223
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea... ORPHA:79329
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Bone marrow hypo... ORPHA:47612
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly, Hepatomegaly OMIM:248500
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Hamartomatous polyposis, Colon cancer... ORPHA:2930
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly OMIM:256550
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Cirrhosis, Hepatomegaly, Pancytopenia, Cho... OMIM:614576
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Chronic Thromboembolic Pulmonary Hypertension
Lupus anticoagulant, Antiphospholipid antibody positivity, Myeloproliferative disorder, Neoplasm,... ORPHA:70591
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo... ORPHA:1929
Thrombocytopenia-Absent Radius Syndrome
Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, Pancreatic cysts OMIM:274000
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaundice, Thromboc... OMIM:170100
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Primary Sjögren Syndrome
Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib... ORPHA:289390
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... ORPHA:319218
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carcinoma, Anemia of inadequate... ORPHA:231222
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating... OMIM:620565
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... ORPHA:420741
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas, Patent ductus arteriosus OMIM:618162
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Adult-Onset Still Disease
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S... ORPHA:829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Antiphospholipi... ORPHA:391487
Igg4-Related Kidney Disease
Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Lymphadenitis, Abnormal mesentery morpholo... ORPHA:449395
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Noonan Syndrome 2
Acute lymphoblastic leukemia, Leukemia, Patent ductus arteriosus OMIM:605275
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Igg4-Related Ophthalmic Disease
Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis ORPHA:449563
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Increased circulating IgA level, Biliary cirrhosis, Decreased ci... ORPHA:2298
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Acute lymphoblastic leu... ORPHA:1052
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia... ORPHA:3132
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly, Hepatomegaly OMIM:612852
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Increased circulating IgA level, Hepatocellular carcinoma, Bil... ORPHA:186
Dubowitz Syndrome
Anemia, Lymphoma, Acute lymphoblastic leukemia, Thrombocytopenia, Neoplasm, Abnormality of neutro... ORPHA:235
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Panhypogammaglobulinemia, Hypoplasia of the th... ORPHA:84064
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Portal inflammation... OMIM:602347
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Verruc... OMIM:618131
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:230800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level, Patent ductus arteriosus ORPHA:369837
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Patent ductus arteriosus OMIM:609942
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukopenia, Leukocytosis ORPHA:36238
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Legionnaires Disease
Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ... ORPHA:549
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Increased circulating interferon-gamma concentration, Neonatal alloim... ORPHA:51
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic... OMIM:615415
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Noonan Syndrome
Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Abnormal pla... ORPHA:648
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopeni... OMIM:612541
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Increased circulating IgA level, Increased circulating IgM level, Increased circ... ORPHA:79078
Rift Valley Fever
Jaundice, Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytope... ORPHA:319251
Hennekam Syndrome
Lymphadenopathy, Decreased circulating antibody level, Lymphangioma, Splenomegaly, Pulmonary lymp... ORPHA:2136
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Thrombocytosis, Macrocytic anemia, Lymphoma, Decreased circulating IgA level OMIM:212750
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia, Patent ductus arteriosus OMIM:190685
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Hemolytic anemia ORPHA:169090
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ... ORPHA:97685
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Bone marrow hypocellularity, Increased circulating IgM level, Decreased circulating IgG l... ORPHA:505248
Brucellosis
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG lev... ORPHA:1304
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Chronic Visceral Acid Sphingomyelinase Deficiency
Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome... ORPHA:77293
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Leukemia ORPHA:2526
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly OMIM:613563
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre... ORPHA:297
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Trichothiodystrophy 3, Photosensitive
Neutropenia, Lymphopenia OMIM:616395
Ellis Van Creveld Syndrome
Acute leukemia ORPHA:289
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato... ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Lysinuric Protein Intolerance
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Hemophagocytosis, Pancreat... ORPHA:470
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Lymphadenopathy, Visceromegaly, Ascites, Hema... ORPHA:2905
Chime Syndrome
Acute leukemia ORPHA:3474
Fusariosis
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno... ORPHA:228119
Leukocyte Adhesion Deficiency
Perianal abscess, Acute myeloid leukemia, Recurrent tonsillitis, Impaired platelet aggregation, L... ORPHA:2968
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Patent ductus arteriosus, Accessory spleen, Capillary hemangioma, Papillary c... OMIM:180849
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Increased hepatic echogen... OMIM:147060
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Decreased circulating antibody level, Anemia, Squamous cell carcinoma of the skin ORPHA:79396
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Cirrhosis, Cholangitis, Panhypogammaglobulinemia OMIM:615207
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Schinzel-Giedion Syndrome
Annular pancreas, Teratoma, Ependymoma, Hepatoblastoma, Sacrococcygeal teratoma, Nephroblastoma, ... ORPHA:798
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level, Hepatomegaly OMIM:606056
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Tropical Endomyocardial Fibrosis
Eosinophilia, Hepatomegaly, Splenomegaly ORPHA:75565
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ... OMIM:306400
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Splenomegaly, ... OMIM:607765
Q Fever
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Granuloma, Cryoglobu... ORPHA:781
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Avian Influenza
Thrombocytopenia, Leukopenia, Hepatitis, Lymphopenia ORPHA:454836
Poland Syndrome
Acute leukemia, Neoplasm of the breast, Abnormality of the liver, Retinal hamartoma ORPHA:2911
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis OMIM:249100
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Increased m... OMIM:222470
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils ORPHA:379
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Hepatomegaly OMIM:280000
Lipodystrophy, Congenital Generalized, Type 4
Decreased circulating IgA level, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:613327
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Thrombocytosis, Decreased circulating IgG level, Hepatic fibrosis, Decreased circul... OMIM:212065
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre... OMIM:613070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Decreased circulating IgA level, Intestinal polyp ORPHA:457485
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia ORPHA:99843
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Cartilage-Hair Hypoplasia
Hepatomegaly, Anemia, Decreased circulating antibody level, Abnormality of the pancreas, Neutropenia ORPHA:175
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia OMIM:619123
Heterotaxy, Visceral, 2, Autosomal
Abdominal situs inversus, Polysplenia, Asplenia OMIM:605376
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Anemia, Hepatomegaly, Decreased circulating antibody level, Cholestasis, Hepatosplenome... ORPHA:247598
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Asplenia OMIM:240300
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Trichothiodystrophy
Anemia, Squamous cell carcinoma, Increased mean corpuscular hemoglobin concentration, Panhypogamm... ORPHA:33364
Cushing Disease
Lymphopenia, Leukocytosis, Decreased eosinophil count ORPHA:96253
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus OMIM:617746
Reynolds Syndrome
Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia OMIM:613471
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Noonan Syndrome 1
Neurofibrosarcoma, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Patent duc... OMIM:163950
Yellow Fever
Jaundice, Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, In... ORPHA:99829
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:355
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation, Patent ductus arteriosus ORPHA:99776
Crimean-Congo Hemorrhagic Fever
Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Increased circulating IgG level, Acute pan... ORPHA:99827
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Decreased eosinophil count, Lymphopenia, Leukocytosis, Neoplasm o... ORPHA:99889
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia OMIM:164280
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Basal cell carcinoma, Squamous cell carcinoma OMIM:601675
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hepatic steatosis, Jaundice, Hepatomegaly, Cholestasis, Thrombocytop... OMIM:619573
Viss Syndrome
Hypereosinophilia OMIM:619472
Sotos Syndrome
Small cell lung carcinoma, Neuroblastoma, Prolonged neonatal jaundice, Acute lymphoblastic leukem... ORPHA:821
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Hyperlipoproteinemia, Type I
Acute pancreatitis, Jaundice, Hepatosplenomegaly, Splenomegaly OMIM:238600
Monosomy 18Q
Astrocytoma, Decreased circulating IgA level, Patent ductus arteriosus ORPHA:1600
Meckel Syndrome
Accessory spleen, Asplenia, Congenital hepatic fibrosis, Cystic liver disease, Pancreatic fibrosi... ORPHA:564
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Patent ductus arteriosus, Abdominal situs i... OMIM:306955
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Patent ductus arteriosus, Malf... OMIM:249000
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Lymphangioma, Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of t... ORPHA:99646
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Asplenia, Abdominal situs inversus, Patent ductus arteriosus OMIM:270100
Sponastrime Dysplasia
Decreased circulating antibody level, Neutropenia ORPHA:93357
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat... OMIM:256040
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Patent ductus arteriosus OMIM:265380
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Decreased circulating antibody level, Asplenia ORPHA:261537
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level, Patent ductus arteriosus ORPHA:2152
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency, Patent ductus arte... ORPHA:500150
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level, Patent ductus arteriosus ORPHA:261552

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 Blnk

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 Blnk.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Blnktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Blnktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Blnkem1(IMPC)H Exon Deletion Mice

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