Gene: Rasgrp1 MGI:1314635

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

RAS guanyl releasing protein 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Rasgrp1 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.

Human diseases associated with Rasgrp1 (2 diseases)
Human diseases predicted to be associated with Rasgrp1 (1068 diseases)

The table below shows human diseases associated to Rasgrp1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 64		Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome		Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,...	ORPHA:3261

The table below shows human diseases predicted to be associated to Rasgrp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym...	OMIM:247630
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M...	OMIM:153600
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 24	Decreased circulating IgG level, Defective T cell proliferation, Lymphopenia, Decreased specific ...	OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency 18	Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells	OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-...	OMIM:615559
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Immunodeficiency 40	Lymphopenia	OMIM:616433
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:312863
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic...	OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces...	OMIM:617006
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Immunodeficiency 8	Lymphopenia	OMIM:615401
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi...	OMIM:619375
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T...	ORPHA:277
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ...	OMIM:247800
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Immunodeficiency 44	Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati...	OMIM:616636
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti...	OMIM:603909
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:859
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti...	OMIM:610163
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency 48	Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:607271
Immunodeficiency 50	Neutropenia, Decreased circulating antibody level, Lymphopenia	OMIM:300988
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:300400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi...	OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom...	OMIM:619220
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection...	OMIM:618495
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased...	OMIM:615767
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Immunodeficiency 19	Lymphopenia	OMIM:615617
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver	OMIM:235550
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169154
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Complement Component 3 Deficiency, Autosomal Recessive	Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Decreased serum compleme...	OMIM:613779
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh...	OMIM:209950
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619510
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro...	ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating...	OMIM:618048
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity	ORPHA:60026
C1Q Deficiency	Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s...	OMIM:613652
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul...	OMIM:619632
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a...	ORPHA:444463
Autoimmune Hepatitis	Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc...	ORPHA:2137
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity...	ORPHA:90283
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,...	ORPHA:3261
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio...	OMIM:619774
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	OMIM:619752
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Acute kidney injury...	OMIM:615008
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I...	ORPHA:276
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:618394
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor...	ORPHA:331206
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia	OMIM:601457
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen...	ORPHA:329918
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Immunodeficiency 104	Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid...	OMIM:608971
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Arthritis, A...	OMIM:304790
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 20	Reduced natural killer cell activity, Reduced natural killer cell count	OMIM:615707
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Decreased serum complement C3, Complemen...	ORPHA:567544
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 75	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ...	ORPHA:2442
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri...	OMIM:152700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran...	OMIM:619858
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,...	OMIM:618852
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Nephrotic Syndrome, Type 23	Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:619201
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Igg4-Related Aortitis	Increased circulating antibody level, Complement deficiency, Antinuclear antibody positivity, Inc...	ORPHA:449400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Decr...	OMIM:616100
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr...	ORPHA:70593
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased...	OMIM:614878
Immunodeficiency 17	T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro...	OMIM:615607
Peeling Skin Syndrome 1	Eosinophilia, Increased circulating IgE level	OMIM:270300
Complement Component 4A Deficiency	Glomerulonephritis, Decreased serum complement C4, Systemic lupus erythematosus, Reduced hemolyti...	OMIM:614380
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice	OMIM:312500
Eosinophilopenia	Autoimmunity, Decreased eosinophil count	OMIM:131430
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Circulating immune complexes, Reversible renal failure, Non-caseating epithelioid cel...	OMIM:607665
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopa...	OMIM:619644
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eosinophilia, Increased circulating IgE level	OMIM:618523
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits	ORPHA:69063
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi...	ORPHA:99931
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, ...	OMIM:102700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic der...	OMIM:618999
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-...	OMIM:615861
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus	OMIM:614420
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome...	OMIM:301078
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir...	ORPHA:35078
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg...	OMIM:613101
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Ker...	OMIM:617388
Boutonneuse Fever	Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Increased circulating I...	ORPHA:83313
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Cutaneous abscess, Eosinophilia, Increased circulating IgE level	OMIM:147060
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti...	ORPHA:443811
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytope...	OMIM:613011
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c...	OMIM:618986
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise...	OMIM:256020
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:275350
Sting-Associated Vasculopathy, Infantile-Onset	Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA level, Pustule, Skin...	OMIM:615934
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Bronchiectasis...	OMIM:608184
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy...	OMIM:600802
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:600903
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphocytosis, Eosinophilia, Hepatospl...	ORPHA:911
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis	OMIM:607624
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Autoimmunity, Hypereosinophilia, Leukocytosis	ORPHA:2902
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti...	OMIM:300291
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Thymoma	Systemic lupus erythematosus, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anem...	ORPHA:99867
Immunodeficiency 7	Autoimmunity, Hypereosinophilia	OMIM:615387
Cystic Echinococcosis	Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Eosinophilia, Absc...	ORPHA:400
Iga Pemphigus	Cutaneous abscess, Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Rheuma...	ORPHA:449395
Kerion Celsi	Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutan...	ORPHA:499
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Hepatomegaly, Hemophagocytosis, Spleno...	OMIM:615122
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly	ORPHA:228312
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type...	ORPHA:37042
C3 Glomerulopathy 3	Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease	OMIM:614809
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Complement Component C1S Deficiency	Systemic lupus erythematosus, Hashimoto thyroiditis	OMIM:613783
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Chilblain Lupus	Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe...	ORPHA:90280
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h...	OMIM:301045
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt...	OMIM:619313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestasis, Antimitochondrial antibody positivity, Anti-liver cytosolic antigen type 1 antibody ...	ORPHA:562639
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Simple Cryoglobulinemia	Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abnormality of the ki...	ORPHA:91139
Acquired Partial Lipodystrophy	Decreased serum complement C3, Lymphocytosis	ORPHA:79087
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly	OMIM:206400
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody...	OMIM:619767
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Macrocephaly/Autism Syndrome	Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly	OMIM:605309
Trichothiodystrophy 3, Photosensitive	Neutropenia, Increased circulating IgA level, Lymphopenia	OMIM:616395
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos...	OMIM:242700
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A...	OMIM:300635
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:301000
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:90362
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thr...	OMIM:603552
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ...	OMIM:613179
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Rheumatoid factor positive, Increased circulating IgG level, ...	OMIM:615816
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosple...	OMIM:618935
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis	OMIM:617609
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema...	OMIM:608709
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i...	ORPHA:572
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Ma...	ORPHA:98848
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomerulonephritis, Hema...	OMIM:613913
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Decreased liver function, Increased circulating i...	ORPHA:158061
Brucellosis	Hepatomegaly, Rheumatoid factor positive, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Kn...	ORPHA:1304
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal ...	ORPHA:507
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Pancreatitis, Nephrotic range proteinuria, Impaired T cell function, Abnormal lympho...	ORPHA:1830
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Abnormal pancreas morphology, Prostatitis, Abnormality of t...	ORPHA:449432
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Cold Agglutinin Disease	Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy	ORPHA:56425
Alopecia Areata 1	Autoimmunity	OMIM:104000
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci...	ORPHA:882
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Leukopenia	ORPHA:33355
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit...	OMIM:300755
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Mesangial hypercellularity, Crescentic glomerulonephritis, Arthr...	OMIM:616414
Cirrhosis, Familial	Increased circulating antibody level	OMIM:118900
Immunodeficiency 61	Agammaglobulinemia	OMIM:300310
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia...	OMIM:614034
Immunodeficiency, Common Variable, 8, With Autoimmunity	B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy...	OMIM:614700
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level...	OMIM:618213
Tularemia	Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno...	ORPHA:3392
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Hyper-Igd Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Increased circulating ...	OMIM:260920
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hemophagocytosis, Abnormal renal physiology, Maculopapular exanthema, Erythroderma,...	ORPHA:540
Amyloidosis, Familial Visceral	Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P...	OMIM:105200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Complement deficiency, Arthritis, Autoimmunity	OMIM:216950
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD3-pos...	ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level	OMIM:614069
Gamma-Heavy Chain Disease	Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma...	ORPHA:100026
Insulin Autoimmune Syndrome	Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit...	ORPHA:411593
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Lysinuric Protein Intolerance	Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepatic failure, Decreased glomerular filtration ra...	ORPHA:470
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Abnormal lymphocyte morp...	ORPHA:3162
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles...	OMIM:620010
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Multiple Myeloma	Nephrotic syndrome, Increased circulating IgA level, Splenomegaly, Nephropathy, Increased circula...	ORPHA:29073
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Absence of lymph node germinal center, Panhypogammaglobulinemia, Urinary retention,...	ORPHA:79124
Omenn Syndrome	Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m...	ORPHA:39041
Q Fever	Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Hematuria, Myocarditis, Antimi...	ORPHA:781
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency	OMIM:248760
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Felty Syndrome	Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Chronic otit...	ORPHA:47612
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Immunodeficiency 69	Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Galactosemia Iii	Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice	OMIM:230350
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell...	ORPHA:331235
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Anti-islet antigen-2 ant...	OMIM:620044
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Decreased serum complement C4, Hematuria, Proteinuria, Microangiopathic hemol...	ORPHA:93552
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in...	ORPHA:221139
Lymphedema, Primary, With Myelodysplasia	Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia	OMIM:614038
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun...	ORPHA:85414
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,...	OMIM:611762
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch...	OMIM:301006
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom...	OMIM:617591
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Aminoaciduria, Splenomegaly	ORPHA:417
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu...	ORPHA:158057
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Splenomegaly, Eczema, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:615577
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level	ORPHA:448237
Primary Sjögren Syndrome	Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Thrombocytopenia,...	ORPHA:289390
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Complement Factor I Deficiency	Decreased serum complement factor H, Decreased serum complement factor B, Recurrent skin infectio...	OMIM:610984
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Systemic lupus erythematosus, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellula...	OMIM:616871
Lymphatic Filariasis	Nephrotic syndrome, Urethral obstruction, Orchitis, Circulating immune complexes, Abnormality of ...	ORPHA:2035
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Prolidase Deficiency	Increased circulating antibody level, Systemic lupus erythematosus, Hepatomegaly, Splenomegaly, E...	OMIM:170100
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased...	ORPHA:543
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Rheumatoid factor positive, Hematuria, Anti-thyroid peroxidase antibody pos...	ORPHA:49041
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy	ORPHA:42642
Aspergillosis	Eosinophilia, Hepatitis, Increased circulating IgE level, Neutropenia	ORPHA:1163
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat...	ORPHA:381
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephr...	OMIM:614376
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi...	ORPHA:567548
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Aregenerative Anemia	Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E...	ORPHA:101096
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Neoplasm of the liver, Increased hepatitis B virus antibody level, Cir...	ORPHA:90003
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat...	OMIM:616217
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo...	OMIM:616730
Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno...	ORPHA:3226
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t...	OMIM:620040
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki...	ORPHA:158048
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula...	ORPHA:86843
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Tempi Syndrome	Increased hematocrit, Polycythemia, Abnormality of the kidney, Increased circulating IgG level, A...	ORPHA:284227
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphol...	ORPHA:330015
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Hepatomegaly, Decreased c...	ORPHA:508533
Pauci-Immune Glomerulonephritis	Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro...	ORPHA:93126
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Immunodeficiency 47	Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Leukopenia, Chron...	OMIM:300972
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Increased circulating IgM level, Neutropenia, Bone marrow hypocellulari...	OMIM:617303
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia, Increased circulating IgE level	ORPHA:2314
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Postinfectious Vasculitis	Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski...	ORPHA:48435
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula...	OMIM:612301
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level	ORPHA:343
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Panhypogammaglobulinemia, Rectal abscess, Decreased circulating antibody level...	OMIM:601495
Cinca Syndrome	Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Anemia, Lymphadeno...	OMIM:607115
Thymic Aplasia	Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,...	ORPHA:83471
Galloway-Mowat Syndrome 7	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in...	OMIM:618348
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp...	OMIM:615952
Congenital Toxoplasmosis	Hepatomegaly, Elevated hepatic transaminase, Ascites, Anemia, Thrombocytopenia, Jaundice, Cardiom...	ORPHA:858
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymph nodes, Abnormality of the kidney, Brain abscess, Abnormali...	ORPHA:54251
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli...	OMIM:121300
Hereditary Orotic Aciduria	Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Impaired T cell function,...	ORPHA:30
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol...	ORPHA:1572
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Roifman Syndrome	Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon...	ORPHA:353298
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ...	ORPHA:79301
Follicular Lymphoma	Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly	ORPHA:545
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Splenomegaly, Increased urinary porphobilin...	OMIM:618892
Insulin-Resistance Syndrome Type B	Systemic lupus erythematosus, Increased circulating IgA level, Nephritis, Skin rash, Decreased se...	ORPHA:2298
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Skin rash, Splenomegaly, Complement deficiency, Hematuria, Arthritis, Episcleritis,...	ORPHA:36412
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Aggressive Systemic Mastocytosis	Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular...	ORPHA:98850
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia	OMIM:613313
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes	ORPHA:33111
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Elevat...	ORPHA:829
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Gaucher Disease Type 1	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Osteoart...	ORPHA:77259
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infect...	ORPHA:36234
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepatic transaminase, Neonatal choles...	OMIM:214900
Icf Syndrome	Abnormality of neutrophils, Anemia, Decreased circulating antibody level, Lymphopenia	ORPHA:2268
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Cryoglobulinemia, Medi...	ORPHA:91138
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia	ORPHA:514
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Panniculitis	OMIM:619183
Ataxia-Telangiectasia	Decreased circulating antibody level, Lymphopenia	ORPHA:100
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis	OMIM:619428
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma...	ORPHA:1414
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J...	ORPHA:846
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Lymphocytosis, Pustule, Acute hepatic failure, Skin rash, Eosinophilia, Inter...	ORPHA:139402
Mogs-Cdg	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	ORPHA:79330
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Panniculitis-Induced Localized Lipodystrophy

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us