Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein tyrosine phosphatase, receptor type, C
Synonyms:
Lyt-4,  T200,  CD45,  Ly-5,  B220

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 Ptprc 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 Ptprc by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased proportion of CD3-positive T ce... OMIM:615615
Immunodeficiency 40
Lymphopenia OMIM:616433
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections, Decre... OMIM:614493
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Defective T cell proliferati... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia, Decreased circulating IgG... OMIM:233650
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu... OMIM:617006
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
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
Immunodeficiency 8
Lymphopenia OMIM:615401
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Diarrhea 6
Diarrhea, Abdominal pain OMIM:614616
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin... OMIM:618495
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev... OMIM:613496
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Re... ORPHA:444463
Immunodeficiency 50
Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Lymphopeni... OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus, Decreased serum complement C8 OMIM:613790
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed hypersen... OMIM:617241
Immunodeficiency 19
Lymphopenia OMIM:615617
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Decrea... ORPHA:169160
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Inflammatory abnormality of the skin, Lack of T cel... ORPHA:277
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, R... ORPHA:3261
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... OMIM:601457
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Decreas... OMIM:601495
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmone... OMIM:209950
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Atopic dermatitis, Decreased specific antibody response to polysacc... ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... OMIM:613652
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarge... OMIM:308230
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea OMIM:614102
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic leukemia, Cerv... ORPHA:514
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Neutropenia, Erythroderma, Glomerul... OMIM:304790
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Anal Sphincter Dysplasia
Bowel incontinence, Diarrhea, Encopresis, Constipation, Chronic constipation OMIM:105563
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... ORPHA:329918
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... OMIM:614470
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, Paratracheal lymp... OMIM:615934
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting ORPHA:103909
Primary Membranoproliferative Glomerulonephritis
C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insuffi... ORPHA:54370
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Pgm3-Cdg
Autoimmunity, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic ... ORPHA:443811
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re... ORPHA:276
Immunodeficiency, Common Variable, 2
Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l... OMIM:240500
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Lipoprotein Glomerulopathy
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... OMIM:618986
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Hyper-Igd Syndrome
Leukocytosis, Vomiting, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic ... OMIM:260920
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Hematuria, Decreased serum c... ORPHA:2134
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Autoimmune Hepatitis
Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Gastrointestinal he... ORPHA:2137
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora... OMIM:613953
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Reduced natural killer cell count, T lymphocytopenia, Perianal abscess OMIM:618108
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:859
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Leukopenia, Systemic lupus erythematosus, Nephritis, Arthritis, Ma... OMIM:152700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis... ORPHA:331206
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 37
Infectious encephalitis, Colitis, Decreased proportion of central memory CD4-positive, alpha-beta... OMIM:616098
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... ORPHA:79087
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Pericarditis, Nephrotic syndrome, Monoclonal immunog... ORPHA:91139
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respiratory tract inf... OMIM:608184
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Jaundice OMIM:234350
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Complement Component C1R/C1S Deficiency
Complement deficiency, Autoimmunity, Nephritis OMIM:216950
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Renal ... OMIM:619644
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia, Recurrent protozoan infections, Recurrent herpes, Neutropenia in presence of anti-ne... ORPHA:572
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Boutonneuse Fever
Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM l... ORPHA:83313
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Complement Component C1S Deficiency
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Vomiting, Anemia, R... ORPHA:90051
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Autoimmunity, Abnormal lymphocyte morphology OMIM:609529
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Recurrent upper respirat... OMIM:602450
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Uveitis, Gl... OMIM:607665
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Lymphadenopathy, Antinuclear antibody positivity, Diarrhea, Vomiting, Nephrotic... ORPHA:93552
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyperprolinemia Type 1
Prolinuria, Proteinuria, Nephropathy ORPHA:419
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... ORPHA:449395
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Reduced natural killer cell cou... OMIM:619510
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pericarditis, Pancreatitis, Oliguria, Abnormal renal tubule morphology... ORPHA:188
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, In... ORPHA:98848
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch... ORPHA:976
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat... OMIM:137950
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Thymoma
Autoimmunity, Imbalanced hemoglobin synthesis, Abnormal lymphocyte proliferation, Anti-acetylchol... ORPHA:99867
Masp2 Deficiency
Complement deficiency, Systemic lupus erythematosus OMIM:613791
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Multiple Myeloma
Nephrotic syndrome, Increased circulating IgA level, Lymphadenopathy, Decreased circulating antib... ORPHA:29073
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... ORPHA:3392
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Restrictive ventilatory defect, Pericarditis, Hepatitis,... ORPHA:829
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Neutropenia, Tubulointerstitia... ORPHA:37042
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Antineutrophil antibody positivity, Cardiomegaly, Rheumatoi... ORPHA:99931
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... OMIM:178610
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Infectious encephalitis, Colitis, Cutaneous anergy,... OMIM:209920
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirat... OMIM:613501
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... OMIM:613179
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large intestine, ... OMIM:301000
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Skin rash, P... OMIM:105200
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... OMIM:618177
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:301028
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Autoimmunity, Focal segmental glomerulosclerosis, Neut... ORPHA:1830
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Iga Pemphigus
Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib... ORPHA:555905
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia, Diffuse ... OMIM:616050
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:618176
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Progressive Multifocal Leukoencephalopathy
CNS demyelination, Abnormal oligodendroglia morphology, Abnormal astrocyte morphology, Abnormal p... ORPHA:217260
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Hypereosinophilia OMIM:212050
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Microscopic Polyangiitis
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Hematuria, Pancreatitis, Arthri... ORPHA:727
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Aspergillosis
Sinusitis, Neutropenia, Hepatitis, Pleuritis, Eosinophilia, Chronic pulmonary obstruction, Infect... ORPHA:1163
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
Lymphoproliferative Syndrome 1
Autoimmunity, Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:613011
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Selective Igm Deficiency
Sepsis, Recurrent herpes, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... ORPHA:331235
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... ORPHA:83471
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased circulati... ORPHA:37748
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesangial hypercellu... OMIM:616818
Whim Syndrome 1
Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:193670
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Diarrhea, Hemolytic anemia, Abnormality of interfer... ORPHA:544482
Immunodeficiency 7
Lymphadenopathy, Autoimmunity, Hypereosinophilia OMIM:615387
Iga Nephropathy, Susceptibility To, 2
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:613944
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... OMIM:606367
Renal Failure, Progressive, With Hypertension
Nephritis, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Renal insufficiency OMIM:161900
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Pustule, Lympha... ORPHA:139402
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Increased circulating antibody... OMIM:615846
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypo... ORPHA:381
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
Diarrhea 9
Diarrhea OMIM:618168
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ... OMIM:601894
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k... OMIM:603965
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... ORPHA:1304
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Common Variable Immunodeficiency
Restrictive ventilatory defect, Pneumonia, Bronchiectasis, Lymphadenopathy, Chronic otitis media,... ORPHA:1572
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Increased circulating interleukin 6, Asplenia, Coombs-positive hemo... OMIM:614034
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Absent circulating B cells, ... OMIM:307200
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Abscess, Biliary tract ob... ORPHA:400
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... OMIM:616005
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Dysphagia, Nephrotic syndrome, Nephropathy, Glomerulopathy, T... OMIM:254900
Lassa Fever
Conjunctivitis, Dysphagia, Oliguria, Increased circulating IgM level, Diarrhea, Jaundice ORPHA:99824
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level,... OMIM:615816
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Complement Component 4A Deficiency
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... OMIM:614380
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased inflammato... ORPHA:158061
Lujo Hemorrhagic Fever
Myocarditis, Leukocytosis, Dysphagia, Leukopenia, Vomiting, Nausea, Rhinitis, Fulminant hepatitis... ORPHA:319213
Cap Polyposis
Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal pain, Constipation ORPHA:160148
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Panhypogammaglobulinemia, Recurre... OMIM:615207
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Decreased serum complement factor H, Anuria, H... OMIM:235400
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Microcytic anemia, Recur... OMIM:618852
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
Preeclampsia
Autoimmunity, Acute kidney injury, Abnormality of the hepatic vasculature, Chronic kidney disease... ORPHA:275555
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Angiostrongyliasis
Vomiting, Nausea, Increased circulating IgA level, Increased circulating IgG level, Increased cir... ORPHA:74
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Chilblain Lupus
Inflammatory abnormality of the skin, Discoid lupus rash, Chronic myelomonocytic leukemia, System... ORPHA:90280
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Legionnaires Disease
Myocarditis, Pericarditis, Infectious encephalitis, Respiratory insufficiency, Endocarditis, Lymp... ORPHA:549
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Rec... ORPHA:183675
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Autoimmunity, Eczema, Vomiting, Megaloblastic anemia, Decrease... OMIM:617780
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:608709
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Stage 5 chronic kidney disease, Protei... OMIM:613237
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Mucopolysacchariduria, Nephrotic syndrome, Macronodular cirrhosis, De... OMIM:215250
Insulin-Resistance Syndrome Type B
Autoimmunity, Leukopenia, Pneumonia, Increased circulating IgA level, Enlarged ovaries, Osteoarth... ORPHA:2298
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Anemia, Arthritis, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:375
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abscess, Rheumatoid factor positive, ... OMIM:618935
Alopecia Areata 1
Autoimmunity OMIM:104000
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lymphatic system,... ORPHA:229717
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... OMIM:259720
Diffuse Alveolar Hemorrhage
Leukocytosis, Autoimmunity, Antineutrophil antibody positivity, Hematuria, Decreased serum comple... ORPHA:90060
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:613913
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Decreased circulating antibody level, Micronodular cirrhosis, Decreased liver funct... OMIM:301045
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Arthritis, Intestina... ORPHA:343
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Nephrosialidosis
Ascites, Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Renal insufficiency OMIM:256150
Cold Agglutinin Disease
Autoimmunity, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Diarrhea, Hemo... ORPHA:56425
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Autoimmunity OMIM:137100
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Cerebral dysmyelination, Reduction of oligodendroglia, Abnormal CNS ... OMIM:312080
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Increased circulating antibody level, Systemic lupu... ORPHA:411593
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Diarrhea, Reticulocytosis, Thr... ORPHA:54057
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Cryoglobulinemia, Hematuri... ORPHA:91138
Focal Segmental Glomerulosclerosis 6
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Chronic... OMIM:614131
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Colchicine Poisoning
Myocarditis, Leukocytosis, Vomiting, Nausea, Oliguria, Diarrhea, Renal insufficiency ORPHA:31824
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells OMIM:615758
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu... ORPHA:79078
Hypocomplementemic Urticarial Vasculitis
Autoimmunity, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematuria, Arthritis, Splenom... ORPHA:36412
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Cough, Increased circulating antibody level, Lymphopenia, Acute pancreatit... ORPHA:319218
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Proteinuria, Anemia, Stage 5 chronic kidney disease OMIM:603278
Rabies
Diarrhea, Nausea and vomiting, Anorexia ORPHA:770
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Dysgammaglobulinemia ORPHA:100025
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Omenn Syndrome
Leukocytosis, Autoimmunity, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... ORPHA:39041
Galactosemia Iii
Hepatomegaly, Vomiting, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Igg4-Related Submandibular Gland Disease
Autoimmunity, Cholangitis, Prostatitis, Lymphadenopathy, Xerostomia, Retroperitoneal fibrosis, In... ORPHA:449432
Lymphatic Filariasis
Lymphangiectasis, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphati... ORPHA:2035
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level, Skin rash OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... OMIM:242860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... ORPHA:108
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia,... ORPHA:90038
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain ORPHA:103907
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopen... OMIM:618886
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Fechtner syndrome
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... OMIM:153640
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... ORPHA:822
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Ascites, Biliary tract obstruction, Hematuria, Osteoarthritis, Anemia, ... ORPHA:77259
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Osteomyelitis, Hepatosplenomegaly, Mandibula... OMIM:259710
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Genetic Recurrent Myoglobinuria
Myositis, Exercise-induced myoglobinuria, Dark urine, Acute kidney injury, Oliguria, Renal insuff... ORPHA:99845
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Dysphagia, Xerostomia, Arthritis, Oliguria, Gastroesophageal reflux, Renal insuffic... ORPHA:220393
Spastic Paraplegia-Nephritis-Deafness Syndrome
Proteinuria, Nephropathy ORPHA:2820
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate, Tubulointers... ORPHA:85450
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthem... ORPHA:781
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Renal insufficiency, Proteinuria OMIM:245900
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, Decreased lymphocyt... OMIM:615122
Melioidosis
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... ORPHA:31202
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Leukopenia, Monocytosis, Refractory anemia, Systemic lupus erythematosus, Bone marrow hyp... OMIM:616871
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria OMIM:161950
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Abnormal mast cell m... ORPHA:98850
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Prolidase Deficiency
Hepatomegaly, Eczema, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting erythematous d... OMIM:170100
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting OMIM:606528
Brunner Syndrome
Diarrhea OMIM:300615
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Cyanosis And Hepatic Disease
Dyspnea, Hepatitis OMIM:219400
Avian Influenza
Productive cough, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, Pneumotho... ORPHA:454836
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:615573
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Complement Component 4B Deficiency
Chronic active hepatitis OMIM:614379
Coproporphyria, Hereditary
Hepatomegaly, Constipation, Vomiting, Splenomegaly, Increased urinary porphobilinogen, Diarrhea, ... OMIM:121300
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Beta-Thalassemia
Hepatomegaly, Respiratory insufficiency, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, ... ORPHA:848
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Good Syndrome
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... ORPHA:169105
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Cryoglobulinemia, Pneumonia, Increa... ORPHA:48435
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Methylmalonic aciduria, Vomiting, Decreased circulating IgA level... OMIM:275350
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Clinodactyly of the 5th finger, Cutaneous mastocytosis, Short foot, Joint contracture of the 5th ... OMIM:248910
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic liver di... OMIM:602114
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Felty Syndrome
Sinusitis, Autoimmunity, Hepatomegaly, Neutropenia, Pericarditis, Episcleritis, Synovitis, Lympha... ORPHA:47612
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Hepatomegaly, Abnormal inflammatory response,... ORPHA:77297
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... OMIM:618523
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Skin rash, Thro... OMIM:603552
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... OMIM:256550
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Episodic abdominal pain, Intermittent diarrhea... ORPHA:209964
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:905
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Renal insufficiency OMIM:613861
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... ORPHA:231226
Unclassified Myelodysplastic Syndrome
Leukocytosis, Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity ORPHA:98827
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Autoimmune Hemolytic Anemia
Autoimmunity, Splenomegaly, Abnormal urinary color, Hemolytic anemia, Abnormal leukocyte morphology ORPHA:98375
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Vomiting, Splenomegaly, Increased ur... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Autoimmune Polyendocrinopathy Type 4
Keratoconjunctivitis sicca, Macrocytic anemia, Tubulointerstitial nephritis, Leukopenia, Aplasia/... ORPHA:227990
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro... OMIM:619113
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total... OMIM:619381
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean cor... OMIM:615234
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn... OMIM:301006
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Lymphocytic interstitial ... ORPHA:133
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Autoimmune Polyendocrinopathy Type 3
Keratoconjunctivitis sicca, Macrocytic anemia, Autoimmune hypoparathyroidism, Tubulointerstitial ... ORPHA:227982
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Lactase Deficiency, Congenital
Diarrhea OMIM:223000
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Neutropenia, Reduced na... ORPHA:540
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... ORPHA:562639
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Nephritis, Giant platelets, Congenit... ORPHA:182050
Rosaï-Dorfman Disease
Lymphadenopathy, Dysgammaglobulinemia, Anemia ORPHA:158014
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:600995
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Congenital Bile Acid Synthesis Defect Type 2