Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
histocompatibility 2, class II antigen A, beta 1
Synonyms:
H2-Ab,  Rmcs1,  A beta,  Ia2,  H-2Ab,  Ia-2,  Abeta,  I-Abeta,  IAb,  I-Ab

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by H2-Ab1 mutations

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

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

The table below shows human diseases associated to H2-Ab1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Bullous Pemphigoid
Autoimmunity, Recurrent infections ORPHA:703
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Infertility, Short stature, Decreased circulating IgA level, I... OMIM:212750
Idiopathic Achalasia
Recurrent aspiration pneumonia ORPHA:930
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Narcolepsy Type 1
ORPHA:2073
Creutzfeldt-Jakob Disease
OMIM:123400
Narcolepsy Type 2
ORPHA:83465

The table below shows human diseases predicted to be associated to H2-Ab1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Antinuclear antibody positivity... OMIM:613495
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocytopenia, Lymphopeni... ORPHA:444463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Mediastinal lymph... OMIM:300853
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulat... OMIM:601859
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,... OMIM:137100
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Neutropenia, Decreased lymphocyte apoptosis, Leukemia, Monocytosis, Splenomegaly, A... OMIM:614470
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent sinopulmonary infectio... OMIM:609529
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... ORPHA:2134
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... OMIM:611926
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Autoimmunity, Decreased proportion of class-switched memory B cells, Neph... OMIM:615559
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Recurrent infections OMIM:613652
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, D... OMIM:617514
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre... OMIM:618261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Recurrent opportunistic infections, A... ORPHA:277
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Acquired Partial Lipodystrophy
Autoimmunity, Microscopic hematuria, Lymphocytosis, Decreased serum complement C3, Glomerulopathy... ORPHA:79087
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Reticular Dysgenesis
Sepsis, Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis... OMIM:267500
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Lymp... OMIM:618982
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Cernunnos-Xlf Deficiency
Autoimmunity, B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Hepatomegaly, Decreased proportion of class-sw... OMIM:607594
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Systemic lupus erythematosus, Nephritis, Thrombocytopenia, Hemolytic... OMIM:152700
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Onychomycosis, Chronic tinea infection, Increased circ... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Masp2 Deficiency
Systemic lupus erythematosus, Recurrent pneumonia OMIM:613791
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Lupus anticoagulant, Hemolytic anemia, Antinuclear antibody positi... OMIM:616744
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Hepatomegaly, Impaired T cell function, Decreased circulating IgA... OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Recurrent opportunistic infections, Lymphadenopathy, Failure to thrive secondary to... OMIM:608971
Congenital Pancreatic Cyst
Pancreatitis, Jaundice ORPHA:313906
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency 32A
Lymphadenopathy, Recurrent infections OMIM:614893
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Primary Membranoproliferative Glomerulonephritis
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... ORPHA:54370
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... OMIM:613496
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circ... OMIM:615285
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Lymphoproliferative Syndrome 2
Hepatomegaly, Sepsis, Severe varicella zoster infection, Lymphadenopathy, Decreased circulating a... OMIM:615122
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Recurrent herpes, Failure to thrive secondary to recurrent infec... ORPHA:169160
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Autoimmune Hemolytic Anemia
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology ORPHA:98375
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... OMIM:616100
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 76
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia,... OMIM:619164
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Recurrent candida infections, Splenomegaly OMIM:269840
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Recurrent mycobacterial infections OMIM:616126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Recurrent otitis me... OMIM:600802
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... OMIM:608184
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine OMIM:266130
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Hepatosplenomegaly, Recur... OMIM:619126
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarged to... OMIM:308230
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... ORPHA:329918
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria OMIM:245900
Immunodeficiency 7
Autoimmunity, Recurrent infections OMIM:615387
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Porphyria, Acute Hepatic
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocyt... OMIM:618986
Complement Component C1R/C1S Deficiency
Autoimmunity, Recurrent bronchitis OMIM:216950
Diffuse Alveolar Hemorrhage
Autoimmunity, Leukocytosis, Antineutrophil antibody positivity, Decreased serum complement C4, He... ORPHA:90060
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of anti-neutropil... ORPHA:572
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anemia, Increased circulating IgG level, Splenomegaly, Hepatospleno... OMIM:209950
Cold Agglutinin Disease
Autoimmunity, Hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:56425
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia OMIM:613500
Alopecia Areata 1
Autoimmunity OMIM:104000
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Nephrotic syndrome, Antineutroph... ORPHA:93552
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level OMIM:617744
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Anemia, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Recurrent infection... OMIM:617827
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria ORPHA:33574
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... ORPHA:331235
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Recurrent infections OMIM:618048
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia, Prematur... ORPHA:100025
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Schnitzler Syndrome
Anemia, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Thymic Aplasia
Sepsis, Lymphadenopathy, Recurrent infections, Recurrent candida infections, Oligoclonal T cell e... ORPHA:83471
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Chylous Ascites
Pancreatitis ORPHA:1160
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu... ORPHA:275
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Micropenis, Hepatosplenomegaly, Hemolytic anemia OMIM:600461
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Decreased circulating IgA level, Reduced red cell adenosine deaminase level, S... OMIM:102700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblas... OMIM:617780
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Decreased circulating IgA level, T lymphocytopenia, Decreased lymphocyte proli... OMIM:606367
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Neutropenia in presence of an... OMIM:613179
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Systemic lupus erythematosus, Antinuclear antibody positivi... OMIM:178610
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Preeclampsia
Autoimmunity, Acute kidney injury, Chronic kidney disease, Thrombocytopenia, Proteinuria, Abnorma... ORPHA:275555
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Reduced natural killer... OMIM:618108
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus, Increased circulating... ORPHA:411593
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Pgm3-Cdg
Autoimmunity, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Rheumatoid facto... ORPHA:443811
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomega... ORPHA:231154
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Growth delay, Short stature, Decrease... OMIM:616005
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Systemic lupus erythematosus OMIM:613779
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Neutropenia, Glomerulonephritis, Coombs-pos... OMIM:304790
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Recurrent cand... OMIM:201100
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Harderoporphyria
Hemolytic anemia, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis, Increased uri... OMIM:618892
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Pyoderma, Recurrent bronchopulmonary infections, Aplasia of the thymu... OMIM:242700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Chronic oral ca... OMIM:150550
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Myasthenia Gravis
Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Muscle specific ki... ORPHA:589
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hypocellula... OMIM:616871
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent viral in... OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Abscess, Rheumatoid factor positive, Splenomegaly, Perianal abscess, Hepatosp... OMIM:618935
Immune Deficiency Disease
Decreased circulating total IgM OMIM:242850
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Roifman Syndrome
Intrauterine growth retardation, Short stature, Lymphadenopathy, Hypogonadotropic hypogonadism, D... ORPHA:353298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Reduced natural killer cell count, T lymphocytopenia, Increased ... OMIM:242860
X-Linked Lymphoproliferative Disease
Autoimmunity, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dy... ORPHA:2442
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Chilblain Lupus
Systemic lupus erythematosus, Chronic myelomonocytic leukemia, Rheumatoid factor positive, Increa... ORPHA:90280
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Unclassified Myelodysplastic Syndrome
Autoimmunity, Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia ORPHA:98827
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Splenomegaly, Lymphopenia OMIM:605309
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Heme Oxygenase 1 Deficiency
Thrombocytosis, Increased circulating interleukin 6, Asplenia, Coombs-positive hemolytic anemia, ... OMIM:614034
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Bone Marrow Failure Syndrome 4
Leukopenia, Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... OMIM:618116
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:90362
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... OMIM:260480
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Immunodeficiency 23
Neutropenia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, Increased circ... OMIM:615816
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Recurrent viral infections, Onychomycosis, Increased circulating IgE level, Re... ORPHA:217390
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Immunodeficiency 31C
Autoimmunity, Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Recurrent infections, Splenomegaly... OMIM:300635
Galactosemia I
Aminoaciduria, Increased level of galactitol in urine, Albuminuria, Galactosuria, Hemolytic anemia OMIM:230400
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Dark urine OMIM:301015
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Positive direct antiglobulin test, Stomatocytos... ORPHA:71275
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Boutonneuse Fever
Thrombocytopenia, Increased circulating IgM level, Increased circulating IgG level, Leukopenia ORPHA:83313
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Babesiosis
Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency ORPHA:108
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Leukocytosis, Hepatomegaly, Sepsis, Anemia, Abnormality of the ly... OMIM:612840
Neonatal Lupus Erythematosus
Neutropenia, Anemia, Splenomegaly, Autoimmune antibody positivity, Aplastic anemia, Pancytopenia,... ORPHA:398124
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis, Exer... OMIM:232800
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Catastrophic Antiphospholipid Syndrome
Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level, Thrombocytop... ORPHA:464343
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Lymphadenopathy, Recurrent infections, Splenomegaly, Decreased circulating total IgM, Pan... OMIM:614700
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anem... ORPHA:3392
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Myeloma, Multiple
Paraproteinemia OMIM:254500
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
Reticular Dysgenesis
Sepsis, Leukopenia, Decreased circulating antibody level, Anemia, Aplasia/Hypoplasia of the thymu... ORPHA:33355
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmunity, Decreased urinary urate, Systemic lupus erythematosus, ... ORPHA:760
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612926
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Lcat Deficiency
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kidney injury, Protei... ORPHA:650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Decreased circulating total IgM OMIM:614878
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Isothenuria, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Inclusion Body Myositis
Autoimmunity ORPHA:611
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Antinuclear antibody positivity OMIM:618795
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Decreased circulating IgA ... OMIM:215250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia, Renal insuf... ORPHA:713
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Decreased circulating IgA level, Recurrent viral upp... OMIM:615577
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Recurrent infections, Growth delay OMIM:615895
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Nephrotic syndrome, Decreased serum complement C4, Comp... ORPHA:567544
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis OMIM:167800
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia, Proteinuria OMIM:261100
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233710
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Increased circulating IgA level, Rheumatoid factor positive, Incre... OMIM:619632
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Decreased proportion of CD4-positive T cells OMIM:301045
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Immunodeficiency 61
Agammaglobulinemia OMIM:300310
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Omenn Syndrome
Recurrent bacterial infections, Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Recurrent funga... OMIM:603554
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia ma... OMIM:233690
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neut... ORPHA:1830
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Felty Syndrome
Hepatomegaly, Sepsis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow h... ORPHA:47612
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Pancreatitis, Cholelithiasis, N... ORPHA:69663
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Griscelli Syndrome
Hepatomegaly, Leukopenia, Short stature, Lymphadenopathy, Decreased circulating antibody level, B... ORPHA:381
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction
Autoimmunity, Hemolytic anemia, Thrombocytopenia, Splenomegaly ORPHA:169090
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Monoclonal immunoglobulin M proteinemia, Nephriti... ORPHA:91139
Ataxia-Telangiectasia
Short stature, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell ... OMIM:208900
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM OMIM:602668
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropen... ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Adrenal insufficiency, Pancreatitis OMIM:619386
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... OMIM:603471
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90036
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis OMIM:618805
Vici Syndrome
Recurrent bacterial infections, Growth delay, Recurrent fungal infections, Cutaneous anergy, Decr... OMIM:242840
Lichtenstein Syndrome
Decreased circulating IgA level, Recurrent respiratory infections, Neutropenia, Recurrent infections OMIM:246550
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Anemia, Renal insufficiency ORPHA:2668
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Recurrent infections, Splenomegaly, Increased circulating ... OMIM:617591
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Leukopenia, Decreased circulating antibody level, Bone marrow hy... OMIM:615190
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Anemia, Nephropathy ORPHA:1192
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hyper-Igd Syndrome
Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi... OMIM:260920
Macrophage Activation Syndrome
Autoimmunity, Increased circulating interleukin 6, Neutropenia, Systemic lupus erythematosus, Ane... ORPHA:158061
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Paratracheal lymphadenopathy, Anemia... OMIM:615934
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Decreased serum complement factor H, Anuria, H... OMIM:235400
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Roifman Syndrome
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Recurrent otitis m... OMIM:616651
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Myoglobinuria, Hemolytic anemia ORPHA:57
Cyclic Neutropenia
Sepsis, Peritonitis, Lymphadenopathy, Opportunistic infection, Perianal abscess, Lymphopenia, Cyc... ORPHA:2686
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Chronic lymphatic leukemia, Systemic lupus erythematosus, Splenomegaly, Abnormal ur... ORPHA:90033
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:608709
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Intrauterine growth retardation, Growth delay, Impaired T cell function, Recurrent ... OMIM:614576
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Jaundice ORPHA:676
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Decreased serum complement C4, Hematuria, Anemia, Autoimmune antibody positivit... ORPHA:231111
Pfapa Syndrome
Hepatomegaly, Infectious encephalitis, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis ORPHA:42642
Immunodeficiency 68
B lymphocytopenia, Sepsis, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cel... OMIM:612260
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the peritoneum, Splenomegaly, Mening... ORPHA:545
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Abnormality of interle... ORPHA:101096
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:613913
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Hemoglobinuria, Splenomegaly, Exercise-induced hemo... OMIM:194380
Common Variable Immunodeficiency
Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hem... ORPHA:1572
Mixed Connective Tissue Disease
Autoimmunity, Leukopenia, Splenomegaly, Nephropathy, Hemolytic anemia ORPHA:809
Cinca Syndrome
Leukocytosis, Growth delay, Lymphadenopathy, Anemia, Meningitis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Pemphigus Vulgaris
Autoimmunity, Recurrent infections, Recurrent cutaneous abscess formation ORPHA:704
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Spondyloenchondrodysplasia
Autoimmunity, Pancytopenia, Chronic kidney disease, Hematuria, Systemic lupus erythematosus, Auto... ORPHA:1855
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Leukemia, Decreased circulating... OMIM:210900
Wilson Disease
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Protein... OMIM:277900
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Sickle Cell Anemia
Leukocytosis, Hematuria, Splenomegaly, Increased red cell sickling tendency, Hemolytic anemia, Re... OMIM:603903
Thymoma
Autoimmunity, Abnormal lymphocyte proliferation, Imbalanced hemoglobin synthesis, Anti-acetylchol... ORPHA:99867
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... ORPHA:288
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 47
Decreased circulating total IgA, Normocytic anemia, Decreased circulating total IgG, Leukopenia, ... OMIM:300972
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... OMIM:611555
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, BCGosis, Monocytosis, Lymphadenopathy, Recurrent lower respiratory tract infections... OMIM:619644
Immunodeficiency 66
Sepsis, Defective T cell proliferation OMIM:618847
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respiratory tract i... OMIM:602450
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism OMIM:145001
Isolated Agammaglobulinemia
Autoimmunity, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thro... ORPHA:229717
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Renal salt wasti... OMIM:613845
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, ... ORPHA:125
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis ORPHA:399180
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoaciduria, Ma... OMIM:603585
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia OMIM:612692
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:182900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:508533
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Decreased T cell activatio... ORPHA:66628
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... OMIM:235700
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:100026
Protoporphyria, Erythropoietic, 1
Hemolytic anemia OMIM:177000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnor... ORPHA:54251
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Wiskott-Aldrich Syndrome
Autoimmunity, Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, ... ORPHA:906
Good Syndrome
Mediastinal lymphadenopathy, Decreased circulating antibody level, Anemia, Recurrent urinary trac... ORPHA:169105
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis ORPHA:289916
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Endocarditis, Lymphadenitis, Oligoarthritis, Arthritis, Septi... ORPHA:31205
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Immunodeficiency 10
Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu... OMIM:612783
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Rheumatoid factor positive, Chronic kidney disease, Eosinophilia, I... ORPHA:449395
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79312
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... ORPHA:103918
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Decreased T cell activatio... ORPHA:179494
Hereditary Orotic Aciduria
Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function ORPHA:30
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Splenomegaly, Increased circulating... OMIM:617303
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Short stature, Normocytic hypoplastic anemia, Lymphadenop... OMIM:610377
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity ORPHA:163703
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185000
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Neuraminidase Deficiency
Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, Bone-marrow foam cells,... OMIM:256550
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Decreased mean platelet volume, Recurrent infections, Lymphocytosis, Thrombocyto... OMIM:617718
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Lipodystrophy, Familial Partial, Type 7
Pancreatitis OMIM:606721
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Decreased circulating antibod... OMIM:615952
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Hypocomplementemic Urticarial Vasculitis