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Gene: Bcl2l11 MGI:1197519

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Gene Summary

Name:
BCL2 like 11
Synonyms:
Bim,  Bod,  1500006F24Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 1.28×10-08
increased grip strength Bcl2l11em1(IMPC)H HOM Early adult 7.96×10-05
increased circulating potassium level Bcl2l11em1(IMPC)H HOM Early adult 6.07×10-06
increased lymphocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 7.59×10-08
increased spleen weight Bcl2l11em1(IMPC)H HOM Early adult 4.42×10-06
increased erythrocyte cell number Bcl2l11em1(IMPC)H HOM Early adult 7.66×10-05
increased large unstained cell number Bcl2l11em1(IMPC)H HOM Early adult 4.68×10-06
decreased total body fat amount Bcl2l11em1(IMPC)H HOM Early adult 5.90×10-05
decreased mean corpuscular hemoglobin Bcl2l11em1(IMPC)H HOM Early adult 4.93×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bcl2l11 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 Bcl2l11 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, Splenomegaly, Decreased circulati... OMIM:616452
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... OMIM:614380
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Increased circulating IgA level OMIM:314000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, Re... OMIM:610163
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 19
Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis... OMIM:615617
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... OMIM:102700
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu... OMIM:613779
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglob... ORPHA:98813
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... ORPHA:37748
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Lymp... OMIM:618495
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positiv... OMIM:615934
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch... OMIM:616005
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, ... OMIM:618261
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... ORPHA:91139
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth... OMIM:619644
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Elevated circulating C-r... ORPHA:449400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Vasculitis, Ly... ORPHA:83313
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,... ORPHA:375
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence o... ORPHA:277
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Q Fever
Rheumatoid factor positive, Abnormal left ventricular function, Abnormality of the liver, Cholecy... ORPHA:781
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic ... OMIM:615816
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent viral upper res... OMIM:615707
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Abnormal lymp... ORPHA:99867
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... OMIM:617575
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Systemic Lupus Erythematosus 17
Lymphopenia, Hypertensive crisis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, T... OMIM:301080
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... OMIM:301000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Brucellosis
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi... OMIM:619858
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Diffuse alveolar hemorrhage, Antinu... ORPHA:99931
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ... OMIM:618394
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... ORPHA:486
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... ORPHA:90159
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti... OMIM:614699
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... ORPHA:100024
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Pate... OMIM:617303
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease... OMIM:613493
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Elevated circulating C-rea... OMIM:613011
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... ORPHA:470
Acquired Partial Lipodystrophy
Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym... ORPHA:79087
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti... ORPHA:449395
Complement Component 8 Deficiency, Type I
Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Bronchiectasi... ORPHA:1572
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin... ORPHA:48435
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Nephrot... ORPHA:93126
Insulin-Resistance Syndrome Type B
Osteoarthritis, Leukopenia, Increased circulating IgG level, Hypoalbuminemia, Hypotriglyceridemia... ORPHA:2298
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi... ORPHA:183
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Nephrotic syndrome, Art... ORPHA:575
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Subarachno... OMIM:243700
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Decreased circulating complement C4 concentration, Serositis, Hemoly... ORPHA:536
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutrop... OMIM:301078
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi... OMIM:616100
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, H... ORPHA:91138
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abscess, Abnormality o... ORPHA:400
Immunodeficiency 51
Recurrent respiratory infections, Abnormal lymphocyte physiology, Chronic mucocutaneous candidias... OMIM:613953
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Perianal abscess, Decreased circulating antibody level, T lymph... OMIM:618108
Candidiasis, Familial, 1
Alopecia, Cutaneous anergy OMIM:114580
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Autoimmu... ORPHA:36412
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Preeclampsia
Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Elevated circulatin... ORPHA:275555
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, Recurrent bacterial infections OMIM:619437
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti... ORPHA:90060
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Cryoglobulinem... ORPHA:33226
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:608709
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin... OMIM:620210
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope... OMIM:618986
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Abnormality... ORPHA:229717
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia... OMIM:619510
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... OMIM:607624
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 68
Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu... OMIM:615966
Prolidase Deficiency
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... OMIM:170100
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Extracranial Carotid Artery Aneurysm
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... ORPHA:494424
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthr... OMIM:616414
Sneddon Syndrome
Antiphospholipid antibody positivity, Cerebral hemorrhage, Hypertension, Decreased circulating to... OMIM:182410
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne... ORPHA:169160
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vascular dilatation,... ORPHA:3287
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... OMIM:617780
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circu... OMIM:613179
Trichothiodystrophy 3, Photosensitive
Abdominal adhesions, Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ... OMIM:613845
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Immunodeficiency 22
Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating tota... OMIM:615758
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu... ORPHA:47612
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Splenomegaly, Vasculitis, Cardiom... OMIM:225750
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat... OMIM:616730
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h... OMIM:613280
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Vasculitis, Arthritis,... ORPHA:343
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... OMIM:300310
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma... ORPHA:47
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con... ORPHA:50918
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced... OMIM:242860
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar ... OMIM:616050
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card... OMIM:618348
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... OMIM:619774
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame... OMIM:607616
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... OMIM:615846
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne... ORPHA:171
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Preeclampsia/Eclampsia 1
Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro... OMIM:603552
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgita... ORPHA:505248
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immunodeficiency 101 (Varicella Zoster Virus-Specific)
Cerebral vasculitis OMIM:619872
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen... OMIM:614069
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Primary Erythromelalgia
Leukemia, Vasculitis, Abnormality of thrombocytes ORPHA:90026
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an... OMIM:616744
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,... ORPHA:448237
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Autoimmunity, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroper... ORPHA:449432
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... OMIM:618935
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu... OMIM:235400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy... ORPHA:79312
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Developmental And Epileptic Encephalopathy 71
Gliosis OMIM:618328
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Retinal arteriolar constric... OMIM:249660
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In... ORPHA:340
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks OMIM:615139
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundic... ORPHA:108
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... OMIM:619752
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Primary Biliary Cholangitis
Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Conj... ORPHA:186
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... OMIM:274150
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h... OMIM:152800
Omenn Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lym... ORPHA:39041
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Transient ischemic attack, Abnormal immunoglobuli... OMIM:242900
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity ORPHA:98827
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... ORPHA:391487
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections... ORPHA:217390
Yellow Fever
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... ORPHA:99829
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis OMIM:613002
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Elevated circulating creat... ORPHA:732
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic anemia, ... ORPHA:398124
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Sterile absc... OMIM:618282
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Aicardi-Goutieres Syndrome 3
Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea... OMIM:615577
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... ORPHA:673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... ORPHA:848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to thrive secon... OMIM:601457
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Joint hemorr... OMIM:313900
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr... ORPHA:54057
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... OMIM:609981
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ... ORPHA:2902
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ... ORPHA:2035
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia OMIM:193670
Catastrophic Antiphospholipid Syndrome
Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,... ORPHA:464343
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia OMIM:269600
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia... ORPHA:760
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom... ORPHA:77259
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Hepatospl... OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... ORPHA:251004
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Vasculitis, Rheumatoid factor positive, Rheumatoi... OMIM:180300
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... OMIM:616740
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... OMIM:614576
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Buerger Disease
Vasculitis ORPHA:36258
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... ORPHA:98850
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis