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 kappa light polypeptide gene enhancer in B cells 2, p49/p100
Synonyms:
p52,  NF kappaB2

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 Nfkb2 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 Nfkb2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Nfkb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Recurrent ear infections,... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Persistent C... OMIM:617514
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cell... OMIM:620449
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... OMIM:619924
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection... ORPHA:444463
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ... OMIM:607271
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 1
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Immunodeficiency, Common Variable, 2
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent oral herpes, Recurrent lower respi... OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc... OMIM:619126
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Immunodeficiency 44
Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Lymphopenia, De... OMIM:616636
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m... OMIM:616911
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased circulating I... OMIM:611926
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperpl... ORPHA:60026
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Decr... OMIM:612692
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Recurrent infections, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas... OMIM:619824
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnor... ORPHA:98813
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections, T ... OMIM:242870
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ... OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, Eczemat... OMIM:608971
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Immunodeficiency 102
Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p... OMIM:301082
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Chr... OMIM:616005
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Re... OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Recurrent bacterial skin infections, Lymph node hyp... ORPHA:276
Immunodeficiency 97 With Autoinflammation
Granuloma, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Lymphopenia, ... OMIM:619802
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Lymphoproliferative Syndrome 3
Lymphadenopathy, Recurrent infections, Decreased circulating antibody level, Partial absence of s... OMIM:618261
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Reduced bone mineral density, Joint stiffness, Decreased circulating IgG level, Leu... OMIM:620210
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:601859
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenome... OMIM:612840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He... ORPHA:397596
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased proportion of CD3-positive T c... ORPHA:331206
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Post-vaccination polio, Agammagl... OMIM:616941
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou... OMIM:212050
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl... OMIM:610163
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ... OMIM:620282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, He... OMIM:612783
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Recurre... OMIM:618969
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren... OMIM:137100
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Lymphopenia... ORPHA:2688
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Osteoporosis, Spleno... ORPHA:100024
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Enlarged tonsils, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Decreased ... OMIM:606367
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c... OMIM:603909
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Skin rash, Leuk... ORPHA:37748
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Persistent EBV viremia, T lymphocytopenia, Decreased proportion of mem... OMIM:619510
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Recurrent infections, Lymphocyt... OMIM:614470
Immunodeficiency 92
Recurrent oral herpes, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Persis... OMIM:619652
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Decreased proportion o... OMIM:618944
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir... OMIM:618495
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel... ORPHA:169154
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition... ORPHA:331235
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Bronchiectasis, Absenc... OMIM:608184
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Decreased circulating IgG level, Abnormal tr... OMIM:612301
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased ... OMIM:613101
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreased circulating IgG... OMIM:102700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocyt... ORPHA:35078
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Recurrent viral infections... OMIM:616873
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy, Conjunctivitis OMIM:617772
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Anemia, Pancyto... OMIM:259710
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Lymphopenia, Cutaneous absces... OMIM:619752
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Macrophage Activation Syndrome
Decreased liver function, Increased circulating lactate dehydrogenase concentration, Splenomegaly... ORPHA:158061
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
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 9
BCGitis, Abnormal natural killer cell count, Recurrent infections, Hypoplasia of the thymus, Decr... OMIM:612782
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Bronchiolitis, Recurrent sinopulmonary inf... OMIM:614878
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin... OMIM:304790
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu... OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ... OMIM:301081
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Sepsis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Persi... OMIM:615122
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo... OMIM:301078
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Ar... ORPHA:47
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Bone marrow ... OMIM:166600
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr... OMIM:259700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Recurrent infections, Increase... OMIM:618282
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Recurrent sinopul... OMIM:616740
Boutonneuse Fever
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Th... ORPHA:83313
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr... OMIM:602450
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Abnormal ... OMIM:615767
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Hepatomegaly, Pancytopenia, Portal hypertension, Camptodactyly, Hypothyr... OMIM:613385
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Skin rash, Thrombocytopenia, S... OMIM:603552
Tularemia
Cervical lymphadenopathy, Pneumonia, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Increa... ORPHA:3392
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Recurrent lower respiratory tract in... OMIM:615758
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome... ORPHA:231222
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis OMIM:618042
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Splenomegaly, Infectious encepha... ORPHA:42642
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Cardiomegaly, Jau... OMIM:620376
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L... OMIM:617099
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Burkitt Lymphoma
Abnormal lymph node morphology, Increased circulating lactate dehydrogenase concentration, Decrea... ORPHA:543
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly,... OMIM:611762
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati... ORPHA:353298
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sc... ORPHA:2137
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly OMIM:162830
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating... ORPHA:227990
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Recurrent respiratory infections, Antiphospholipid antibody positivity, Increased circula... OMIM:615934
Ataxia-Telangiectasia
Recurrent lower respiratory tract infections, Recurrent bronchitis, Abnormal spermatogenesis, Hyp... OMIM:208900
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Reticular Dysgenesis
Sepsis, Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Psoriasiform dermatitis, N... ORPHA:37042
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,... OMIM:601457
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno... ORPHA:911
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S... ORPHA:545
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di... OMIM:619705
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Decreased circulating to... OMIM:619381
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating... ORPHA:227982
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... OMIM:259720
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Bronchiectasis, N... OMIM:226990
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormal lymph node morphology, Elevated circulating hepatic transaminase concentr... ORPHA:54251
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis... OMIM:243700
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Bone marrow hypocell... ORPHA:549
Congenital Disorder Of Glycosylation, Type Iir
Jaundice, Hepatomegaly, Recurrent infections, Decreased circulating antibody level, Micronodular ... OMIM:301045
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, B lymphocytopenia, Increased circulating IgE level, Recurrent bacte... ORPHA:217390
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, T l... ORPHA:572
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Felty Syndrome
Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Osteoly... ORPHA:47612
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp... OMIM:615387
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Splenic... ORPHA:31202
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho... ORPHA:50251
Immunodeficiency 27B
Salmonella osteomyelitis, Generalized lymphadenopathy, Osteomyelitis OMIM:615978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent lower respiratory tract infections, Decreased cir... OMIM:617744
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Sneddon Syndrome
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia OMIM:182410
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, Abnormality o... ORPHA:229717
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Thrombocytopenia, Splenomegal... ORPHA:848
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:243150
Common Variable Immunodeficiency
Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad... ORPHA:1572
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Cholangitis, Recurrent ur... OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Reduced... OMIM:242860
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Decreased circulating a... OMIM:616910
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym... ORPHA:79124
Mycosis Fungoides
Psoriasiform dermatitis, Lymphadenopathy, Eczematoid dermatitis OMIM:254400
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep... ORPHA:158057
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic anemia, Increased circu... OMIM:620603
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul... OMIM:259730
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu... ORPHA:846
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ap... ORPHA:2204
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Pancytopenia, Neutropenia in pres... ORPHA:228426
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Craniosynostosis, Accessory sple... OMIM:620005
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc... ORPHA:98850
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Acute myeloid leukemia, Recurrent tonsillitis, Azoospermia, Dec... ORPHA:125
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Recurrent infections, Hypersegmentation of neutrophil nuclei, Me... OMIM:617780
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Hyperhidrosis, Splenomegal... ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Elevated circulating... OMIM:617591
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Decrea... ORPHA:100
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Decreased circulating antibody level, Hypothyroidism, Recurrent pneumonia, Hepat... OMIM:619750
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase... OMIM:617388
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D... OMIM:275350
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteoporosis, ... OMIM:613327
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Elevated circulating hepatic transaminase co... ORPHA:540
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Arthritis, Skin rash, Sinusitis, Conjunct... ORPHA:33110
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture, E... OMIM:620366
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Beta-Thalassemia Major
Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, Adrenal insuffi... ORPHA:231214
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,... ORPHA:39041
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ... ORPHA:2584
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Mogs-Cdg
Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Hypothyroidism, Decreased ci... ORPHA:79330
Graft Versus Host Disease
Limited elbow movement, Elevated circulating hepatic transaminase concentration, Inflammatory abn... ORPHA:39812
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Anemia, Mediastinal lymphadeno... ORPHA:160
Congenital Syphilis
Periostitis, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Synovitis, Prolonged neonatal ja... ORPHA:499009
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy OMIM:234810
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytop... OMIM:601495
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly... ORPHA:85414
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Lymphadenopathy, Anemia, Chronic rhini... ORPHA:667
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Circulating immune complexes, Arthritis, Viral hepatit... ORPHA:91138
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple... OMIM:614034
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:619644
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... OMIM:607765
Pseudomyxoma Peritonei
Inflammation of the large intestine, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Chronic Beryllium Disease
Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ... ORPHA:133
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Increased circulating IgA level, Skin rash,... OMIM:260920
Cinca Syndrome
Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uv... OMIM:607115
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, Reduced natural killer cell count, Rec... ORPHA:221139
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,... OMIM:603554
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Primary hypothyroidism, Generalized osteoporosis, Lymphopenia, Thyroiditis, Hepatosplenomegaly, A... ORPHA:391487
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci... ORPHA:289390
Cyclic Neutropenia
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Decreased eosinophil cou... ORPHA:2686
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent inf... OMIM:619374
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopu... OMIM:242700
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Mirage Syndrome
Anemia, Radial club hand, Gastroesophageal reflux, Decreased body weight, Decreased testicular si... OMIM:617053
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Increased circulating antibody level, Viscer... ORPHA:2905
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Papa Syndrome
Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory resp... ORPHA:69126
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Primary Biliary Cholangitis
Biliary cirrhosis, Ascites, Splenomegaly, Abnormal intrahepatic bile duct morphology, Jaundice, H... ORPHA:186
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Desmosterolosis
Increased bone mineral density, Osteopetrosis, Anomalous pulmonary venous return, Splenomegaly ORPHA:35107
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus, Abnormality of complement system OMIM:613783
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Anemia, Increased ci... OMIM:620514
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Arthritis, Bronchitis, Chronic sinusitis, Decreased c... ORPHA:420741
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc... ORPHA:294
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphoc... OMIM:614162
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Myelofi... ORPHA:457077
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Dysphagia ORPHA:89844
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Decreased proportion of ... OMIM:301074
Dyskeratosis Congenita, Digenic
Anemia, Recurrent infections, Decreased circulating IgG level, Decreased circulating total IgM, D... OMIM:620040
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Prostatitis, Pyoderma, Pneumonia, Panhypog... OMIM:307200
Macrocephaly/Autism Syndrome
Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Lymphop... OMIM:605309
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Pediatric Systemic Lupus Erythematosus
Skin rash, Discoid lupus rash, Ascites, Increased circulating lactate dehydrogenase concentration... ORPHA:93552
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Abnormal circulating enzyme concentration or a... ORPHA:2785
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent viral infections, Recurrent respiratory ... OMIM:620532
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase ... ORPHA:79303
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly... OMIM:618963
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:796
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Increased circulating antibody level, Recurrent lower respiratory tract inf... OMIM:615846
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Roifman Syndrome
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Hip contracture, Re... OMIM:616651
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Celiac Disease, Susceptibility To, 1
Rickets, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocy... OMIM:212750
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Myasthenia Gravis
Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Pure red cell apla... ORPHA:589
Intermediate Osteopetrosis
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Hepatosplen... ORPHA:210110
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Coronal craniosynostosis, Decreased calvarial ossification, Hepatosplenomegaly, Incom... ORPHA:313855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ... OMIM:615688
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level, Meningitis, Infectious encephalitis ORPHA:448237
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung ORPHA:654
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Pleural effusion, Lymphadenopathy, Pneumothorax ORPHA:411703
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Acne, Increased bone mineral density, Leukocytosis, ... ORPHA:77297
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Recurrent bronchopulmonary infect... OMIM:617303
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Cystic Echinococcosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir... ORPHA:400
Complement Component 4B Deficiency
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis OMIM:614379
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly OMIM:619183
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Multiple Myeloma
Osteopenia, Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA l... ORPHA:29073
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis... ORPHA:51636
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Inflammatory abnormality of ... ORPHA:1451
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Prolidase Deficiency
Systemic lupus erythematosus, Hepatomegaly, Anemia, Increased circulating antibody level, Eczemat... OMIM:170100
Brucellosis
Bronchitis, Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, M... ORPHA:1304
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233710
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent respiratory i... OMIM:615207
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Increased circulating lactate dehy... ORPHA:514
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepati... OMIM:610377
Babesiosis
Jaundice, Hepatomegaly, Recurrent pharyngitis, Limitation of joint mobility, Hyperhidrosis, Leuko... ORPHA:108
Mccune-Albright Syndrome
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Monostotic fibrou... ORPHA:562
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Gaucher Disease Type 1
Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pathologic fracture, Ost... ORPHA:77259
Smith-Kingsmore Syndrome
Wide anterior fontanel, Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism OMIM:616638
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Gaucher Disease
Increased circulating antibody level, Joint stiffness, Leukopenia, Splenomegaly, Pathologic fract... ORPHA:355
Microsporidiosis
Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio... ORPHA:2552
Cronkhite-Canada Syndrome
Anorexia, Dystrophic fingernails, Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Cac... ORPHA:2930
Ebola Hemorrhagic Fever
Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen... ORPHA:319218
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ... OMIM:233690
Immunodeficiency 12
Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Complete or near-com... OMIM:615468
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Recurrent otitis media, Recurrent respiratory infe... OMIM:618523
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Reticular pattern on pulmonary HRCT, Ane... OMIM:614742
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St... ORPHA:2494
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Elevated total serum tryptase, Myeloproliferative d... ORPHA:79456
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Joint contracture, Flexion contracture, Splenomegaly, Hypogonadism OMIM:608540
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Premature ovarian insufficiency, Hepatomegaly, Elevated circulating hepatic transamin... OMIM:212065
Gracile Bone Dysplasia
Decreased skull ossification, Ankyloglossia, Asplenia, Failure to thrive, Hypoplastic spleen OMIM:602361
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis OMIM:619223
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Pneumonia, Recurrent otitis media, Lymphadenopathy, Juvenile rheuma... OMIM:607944
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,... OMIM:176920
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Abnormal circula... ORPHA:98827
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung ORPHA:424019
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteo... ORPHA:79301
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda... OMIM:613313
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal pe... ORPHA:83469
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia,... ORPHA:158029
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Hepatomegaly, Splenomegaly ORPHA:417
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Acute hepatic failure, Spleno... ORPHA:882
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Anhidrosis, Thrombocytopenia, Splenomegaly, ... ORPHA:169090
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... ORPHA:263665
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath... ORPHA:809
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch... ORPHA:562639
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Limitation of knee mobility, Osteolytic defects of the phalange... OMIM:228000
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatosplenomegaly, Splenomegaly, Enlarged platelet dense granule... OMIM:608233
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn... OMIM:620296
Maternal Uniparental Disomy Of Chromosome 1
Recurrent infections, Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia ORPHA:251009
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Reduced lysosomal acid lipase activity OMIM:620151
Congenital Disorder Of Glycosylation, Type Iic