Gene Summary

Name:
integrin alpha FG-GAP repeat containing 2
Synonyms:
2700050P07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean corpuscular hemoglobin concentration Itfg2em1(IMPC)J HET Early adult 1.59×10-05
iris synechia Itfg2em1(IMPC)J HET Early adult 6.35×10-08
preweaning lethality, incomplete penetrance Itfg2em1(IMPC)J HOM   Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

3 Images

X-ray

XRay Images Forepaw

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

3 Images

X-ray

XRay Images Skull Lateral Orientation

3 Images

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

9 Images

Human diseases caused by Itfg2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Itfg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
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
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... OMIM:618944
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... OMIM:615767
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ... ORPHA:277
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Kimura Disease
Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular... OMIM:603909
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hepatomegal... OMIM:300400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... ORPHA:98813
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Nodular regenerative hyperpla... OMIM:301082
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
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
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ... OMIM:601859
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly... OMIM:618495
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp... OMIM:613101
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ... OMIM:209950
Immunodeficiency 61
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level OMIM:300310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci... OMIM:614069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt... OMIM:616100
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat... ORPHA:169160
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
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
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:620532
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r... OMIM:308230
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
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
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
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... OMIM:618116
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Ascites, Hepatic steatosis, Decreased proportion of CD4-positive T cells,... OMIM:301045
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia OMIM:618752
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Adult Idiopathic Neutropenia
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level ORPHA:2688
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased... OMIM:300635
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level ORPHA:37748
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... OMIM:608184
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, Eosinophilia, Mon... OMIM:226990
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... OMIM:304790
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu... ORPHA:33355
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy... OMIM:619313
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Immunodeficiency 22
Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o... OMIM:615758
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616910
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia... OMIM:618282
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec... OMIM:601495
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph... ORPHA:90362
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ... OMIM:243700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... ORPHA:436159
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi... OMIM:614700
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level OMIM:615190
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomega... OMIM:620565
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Decreased circu... OMIM:620376
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
Immunodeficiency 23
Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu... OMIM:615816
Myeloma, Multiple
Paraproteinemia OMIM:254500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos... ORPHA:275
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Lymphopenia, Leukopenia, Decreased circulating... OMIM:301080
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ... OMIM:616050
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus ORPHA:100
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... OMIM:618213
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph... OMIM:300755
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia OMIM:256500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:572
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo... OMIM:617591
Immunodeficiency, Common Variable, 12, With Autoimmunity
Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, He... OMIM:617388
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... OMIM:301000
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly OMIM:605309
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... OMIM:618935
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Facial Spasm
Anisocoria OMIM:134300
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu... OMIM:300972
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... ORPHA:79124
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con... ORPHA:449432
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... OMIM:614195
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Lymphopenia,... OMIM:613179
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Ebola Hemorrhagic Fever
Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute... ORPHA:319218
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto... OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Common Variable Immunodeficiency
Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha... ORPHA:1572
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,... OMIM:615934
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas ORPHA:935
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A... ORPHA:540
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Agammaglobulinemia, ... OMIM:243150
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor... ORPHA:911
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula... OMIM:208900
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane... OMIM:612301
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Prolidase Deficiency
Splenomegaly, Increased circulating antibody level, Prolonged neonatal jaundice, Anemia, Thromboc... OMIM:170100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod... ORPHA:90045
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Anterior uveitis ORPHA:279914
Autoimmune Hepatitis
Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody le... ORPHA:2137
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia OMIM:307200
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Eosinophilia ORPHA:2314
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L... OMIM:260920
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia OMIM:616395
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... ORPHA:508533
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Ascites, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leu... ORPHA:77259
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia OMIM:620133
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Decreased circulating antibody level... ORPHA:293978
Lead Poisoning
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... ORPHA:330015
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Portal hypertension, Spl... OMIM:613385
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal... ORPHA:79330
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ... ORPHA:331235
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts OMIM:617425
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:620040
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:848
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Increased circulating IgE level, Autoimmune hemolytic anemia, Splenomegaly, Iron defic... ORPHA:37042
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f... ORPHA:158061
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology ORPHA:1617
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG... ORPHA:29073
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Anemi... OMIM:603553
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia... OMIM:242900
Hemochromatosis, Type 3
Anemia, Lymphopenia, Cirrhosis, Neutropenia OMIM:604250
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc... ORPHA:449395
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto... OMIM:615688
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Cataract, Choroidal neovascularization, Chorioretinal scar, Posterior synechia... ORPHA:91500
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Chylou... ORPHA:90363
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... ORPHA:508542
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased circulating an... ORPHA:51636
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G... ORPHA:562639
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume OMIM:616943
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227990
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, To... ORPHA:2686
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ... ORPHA:1830
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Posterior synechiae of the anterior chamber, Developmental cataract OMIM:613154
Bloom Syndrome
Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Acute ly... ORPHA:125
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Decreased circulating IgA level, Hepatic steatosis OMIM:613327
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233710
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Increased circulating IgG4 level, Eosinophilia, Pancreatitis, Ly... ORPHA:449563
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ... OMIM:242840
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... ORPHA:79098
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc... OMIM:251260
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Immunodeficiency 31C
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Autoimmune hemolytic ane... OMIM:614162
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab... OMIM:233690
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil... ORPHA:183675
Bloom Syndrome
Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Hepatic steatosis, De... OMIM:210900
Syndromic Diarrhea
Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ... ORPHA:84064
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... OMIM:127550
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasi... ORPHA:83617
Alg12-Cdg
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... ORPHA:79324
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis OMIM:212750
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary... ORPHA:227982
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Decreased circulating comple... ORPHA:93552
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Coats Disease
Leukocoria OMIM:300216
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Thrombocytopenia, Hepat... ORPHA:77261
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Hennekam Syndrome
Ascites, Lymphopenia, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, Pulmon... ORPHA:2136
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Granuloma, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granu... OMIM:306400
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Reduced circulating complement co... ORPHA:289390
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic fibrosis, Decreased circulating IgA level, Hepatic steat... OMIM:212065
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Rift Valley Fever
Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula... ORPHA:319251
Brucellosis
Granuloma, Hypersplenism, Abnormality of the liver, Leukopenia, Leukocytosis, Splenomegaly, Anemi... ORPHA:1304
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... ORPHA:760
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:420741
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int... ORPHA:391487
Trichinellosis