Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2
Synonyms:
NFAT1-D,  NFAT1,  NFATp

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nfatc2 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 Nfatc2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232

The table below shows human diseases predicted to be associated to Nfatc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... OMIM:618944
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Decreased circulating total IgM OMIM:617638
Myeloma, Multiple
Paraproteinemia OMIM:254500
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lym... OMIM:603909
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... OMIM:613494
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hepatomegal... OMIM:300400
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function ORPHA:277
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency 50
Decreased circulating antibody level OMIM:300988
Isolated Anencephaly
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level OMIM:620532
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:619707
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level OMIM:618523
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:613502
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... OMIM:613101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res... ORPHA:331206
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... OMIM:209950
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morphology ORPHA:98848
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Immunoglobulin A Deficiency 2
Decreased circulating IgA level OMIM:609529
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level ORPHA:217390
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 114, Folate-Responsive
Increased circulating IgE level, Decreased circulating IgG level OMIM:620603
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619752
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Immunodeficiency 15B
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... OMIM:615592
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level ORPHA:37748
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop... OMIM:620514
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM OMIM:610798
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla... OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... OMIM:612692
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level OMIM:613078
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries ORPHA:2969
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... OMIM:615122
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr... ORPHA:543
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
Immunodeficiency 37
Decreased circulating antibody level OMIM:616098
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased circulating IgA level OMIM:618282
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level ORPHA:2902
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619510
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Caffey Disease
Increased circulating antibody level ORPHA:1310
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia ORPHA:318
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... ORPHA:911
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level OMIM:618752
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... OMIM:618213
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level OMIM:617006
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi... OMIM:606367
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy ORPHA:2584
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos... ORPHA:158057
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosinophilia, Mon... OMIM:226990
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Aicardi-Goutieres Syndrome 6
Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal... OMIM:615010
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM OMIM:243700
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega... ORPHA:417
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 46
Decreased circulating antibody level OMIM:616740
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:614069
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Hepatomegaly, Coombs-positive hemolytic anemia, Lymphadenopathy, Thromb... OMIM:614034
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Immunodeficiency 23
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level OMIM:615816
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A... ORPHA:540
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Immunodeficiency 22
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615758
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Aspergillosis
Increased circulating IgE level ORPHA:1163
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Severe B lymphocytopenia, Increased circulating IgE level, Lymphopeni... OMIM:102700
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449432
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Wolman Disease
Hepatomegaly, Adrenal calcification, Splenomegaly OMIM:620151
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level ORPHA:2314
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... ORPHA:74
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:618116
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Pancy... OMIM:614700
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Autoi... ORPHA:436159
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level ORPHA:1116
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:169160
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level OMIM:301045
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:620010
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Lack of T cell... ORPHA:572
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Decreased circu... OMIM:620376
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Pgm3-Cdg
Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re... ORPHA:443811
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... ORPHA:79456
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A... ORPHA:178320
T-Cell Immunodeficiency With Thymic Aplasia
Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of naive T cells,... ORPHA:83471
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Lead Poisoning
Increased circulating IgE level, Abnormality of humoral immunity ORPHA:330015
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy ORPHA:353298
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Increased circulating IgE level, Increased circulating IgA level OMIM:620565
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T... OMIM:617591
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy OMIM:619750
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level OMIM:616576
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Agammaglobulinemia, ... OMIM:243150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Acquired Partial Lipodystrophy
Lymphocytosis, Hepatic steatosis ORPHA:79087
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Reticular Dysgenesis
Decreased circulating antibody level ORPHA:33355
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... OMIM:301000
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Increased circulating interleukin 10 concentration, Howell-Jolly bodie... OMIM:613759
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph... ORPHA:83469
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... OMIM:619644
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis ORPHA:319552
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Babesiosis
Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia ORPHA:108
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis ORPHA:3318
Wolman Disease
Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Hepatomegaly, Bone-m... ORPHA:75233
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... ORPHA:1451
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis OMIM:616719
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Hypogonadism, Decreased testicular size, Decreased serum testosterone c... OMIM:201100
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Anemia, Generalized lymphadenopathy, Lymphad... ORPHA:160
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Sweet Syndrome
Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L... ORPHA:3243
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... OMIM:616828
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Trichinellosis
Increased circulating IgE level ORPHA:863
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... ORPHA:29073
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan... OMIM:614576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Increased circulating IgM level OMIM:242860
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Po... OMIM:615234
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Mhc Class Ii Deficiency 1
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Anemi... OMIM:603553
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... OMIM:610377
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly, Decreased circulating antibody level, Hydrocele testis OMIM:605309
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:612526
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Joubert Syndrome 33
Splenomegaly OMIM:617767
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... OMIM:258900
Prolidase Deficiency
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Anemia, Thromboc... OMIM:170100
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Proteus Syndrome
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic... ORPHA:744
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Splenomegaly OMIM:602390
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy