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, non-receptor type 22 (lymphoid)
Synonyms:
70zpep,  Ptpn8

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.

Legacy Phenotype Associated Images

View all 30 images

Human diseases caused by Ptpn22 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 predicted to be associated to Ptpn22 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Bronchiectasis, Increased circu... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... OMIM:617006
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Kimura Disease
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Inflammation of the large intestine, Incre... OMIM:615767
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Recurrent pharyngitis, Decrease... OMIM:308240
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Candidiasis, Familial, 2
Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Vas... ORPHA:37748
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Increased circulating antibody level, Recurrent otitis... OMIM:618495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Nephroti... OMIM:615846
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Pulmonary infi... OMIM:618394
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Pulmonary interstitial lymphocyte infiltra... OMIM:606367
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Lymphadenopathy,... ORPHA:2442
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Decreased CD69 upregulation upon TCR activation, Autoimmune thrombocytopeni... OMIM:300853
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Persistence of primary teeth, ... OMIM:147060
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopeni... ORPHA:1572
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Autoimmune antibody positivity, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Macroglossia, Increased circulating IgE level, Bronchiectasis, Dental crowding, Recurrent otitis ... OMIM:618523
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia, Gingivitis, Premature loss of t... OMIM:162700
Boutonneuse Fever
Skin rash, Renal insufficiency, Increased circulating IgM level, Maculopapular exanthema, Lymphad... ORPHA:83313
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, H... OMIM:304790
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... OMIM:615816
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Lymphadenitis, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:331206
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Pneumonia, Abnormal delayed hypersensitivi... OMIM:600903
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Xerostomia, Increased circulating IgG level, Abnormality of the... ORPHA:449432
Q Fever
Hematuria, Cryoglobulinemia, Pericarditis, Anticardiolipin IgG antibody positivity, Antimitochond... ORPHA:781
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, Sclerosing cholangitis, Jau... ORPHA:2137
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Paratracheal lymphadenopathy, Increased circulating IgG level, Cytoplasmic antineutrop... OMIM:615934
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Increased circulating IgM level, Short nose, Bronchiectasis, Pne... OMIM:242860
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Anemia, Leukopenia, Eczema, Lymphadenopathy, Oral ulcer, Recurrent otiti... OMIM:615688
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, E... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Abnormal esophagus morphology, Neutropenia, P... ORPHA:1163
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Pericarditis, A... ORPHA:449395
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Increased circulating antibody level, Discoid lupus rash... ORPHA:90280
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Increased circulating IgA level, Uveitis, Punctate kera... OMIM:617388
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Autoimmunity, Persistence of primary teeth, Glomerul... ORPHA:375
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Decreased serum complement C4, Hypertension, Membra... ORPHA:329918
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Increased circulating antibody level, Abnormality of the testis... ORPHA:400
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Decreased circulating antibody level, Hepatomegaly, Prolonged neona... OMIM:300972
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Patent ductus arteriosus, Neutropenia, Anemia, Leukopenia, Wide... OMIM:617303
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Pleuritis, Thrombocytope... OMIM:152700
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Skin rash, Increased circulating IgE level, Chronic otitis media, Abno... ORPHA:2314
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sple... OMIM:616005
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Pneumonia, Anemia, Otit... ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Recurrent upper respiratory tract infe... OMIM:613101
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Generalized lymphadenopathy... OMIM:618986
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Insulin-Resistance Syndrome Type B
Skin rash, Hyperinsulinemic hypoglycemia, Pneumonia, Increased circulating IgG level, Leukopenia,... ORPHA:2298
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of C... OMIM:613011
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Brucellosis
Pericarditis, Intrarenal abscess, Pneumonia, Increased circulating IgG level, Anemia, Leukopenia,... ORPHA:1304
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Recurrent... ORPHA:331235
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Hypereosinophi... OMIM:256500
Waldenström Macroglobulinemia
Renal insufficiency, Cryoglobulinemia, Gastrointestinal hemorrhage, Pulmonary infiltrates, Abnorm... ORPHA:33226
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Xerostomia, Anemia, Renal insufficiency, Abno... ORPHA:85443
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Generalized lym... OMIM:614700
Tubulointerstitial Nephritis With Uveitis
Abnormality of the mouth, Panuveitis, Uveitis, Reversible renal failure, Circulating immune compl... OMIM:607665
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Partial absence of specific antibody resp... OMIM:618108
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... OMIM:613179
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Nasal polyposis, Sinusitis, Myocarditis, Renal insufficiency, Myositis, Tra... ORPHA:183
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Autoimmunity, Megaloblastic anemia, Lymphopenia, Decreased c... OMIM:617780
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Recurrent upper and lower respiratory tract infections, Auto... ORPHA:275
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Hypocomplementemic Urticarial Vasculitis
Skin rash, Small vessel vasculitis, Hematuria, Proteinuria, Autoimmunity, Pleural effusion, Emphy... ORPHA:36412
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Vascular dilatation, Hypertension, Myocardi... ORPHA:3287
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Pneumonia, Vasospasm, Abnormality of the bladder, Increased... ORPHA:228123
Muckle-Wells Syndrome
Skin rash, Renal amyloidosis, Abnormal palate morphology, Uveitis, Nephropathy, Hepatomegaly, Con... ORPHA:575
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Generalized lymphadenopathy, Pancytopenia, Hypercalciuria, Pulmonary arterial hyp... OMIM:181000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Abnormality of the intrahepatic bile duct, Cirrhosis, Increa... ORPHA:562639
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Oral ulcer, Decreased circulating antibody level, Uveitis,... OMIM:615122
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia... ORPHA:906
Igg4-Related Ophthalmic Disease
Thyroiditis, Increased circulating IgG4 level, Sinusitis, Retroperitoneal fibrosis, Abnormality o... ORPHA:449563
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level, Lymphadenopathy OMIM:618048
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Neutropenia, Decreased circulating total IgM, Dec... ORPHA:2643
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Proteinuria, Oral ulcer, Decreased serum complement C4, Synovitis... ORPHA:567544
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Prolidase Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Short nose, Increased circulating antibody lev... OMIM:170100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenopathy, Pulmonary fibrosis, Lymphadenitis, Oral ulcer, Acute pancreatitis, Recur... OMIM:618935
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Panhypogammaglobulinemia OMIM:602450
Cryoglobulinemic Vasculitis
Renal insufficiency, Hematuria, Cryoglobulinemia, Gastrointestinal hemorrhage, Proteinuria, Viral... ORPHA:91138
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Decreased serum insulin-like growth factor 1, Thyroiditis, Delay... OMIM:618985
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
Lead Poisoning
Delayed eruption of teeth, Skin rash, Increased circulating IgE level, Decreased circulating oste... ORPHA:330015
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Premature loss of teeth, Abnormality of the ... OMIM:114580
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Ja... OMIM:301045
Complement Component 4A Deficiency
Vasculitis, Complement deficiency, Systemic lupus erythematosus, Glomerulonephritis OMIM:614380
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow mouth, Open mouth, Bulbous nose, Decreased proportion of CD4-positive helper T cells, Depr... ORPHA:508533
Primary Erythromelalgia
Vasculitis, Leukemia, Recurrent respiratory infections ORPHA:90026
Thymoma
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Decreased... ORPHA:99867
Cirrhosis, Familial
Increased circulating antibody level, Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Vasculit... ORPHA:343
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Increased circulating IgE level, Abnormality of the dentition ORPHA:1858
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia, Decreased circulating total IgM, Decreased circulating IgG level,... OMIM:251190
Spondyloenchondrodysplasia
Skin rash, Hematuria, Pneumonia, Anti-dsDNA antibody positivity, Pancytopenia, Chronic kidney dis... ORPHA:1855
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Acquired Partial Lipodystrophy
Autoimmunity, Lymphocytosis, Decreased serum complement C3, Hepatic steatosis ORPHA:79087
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... OMIM:613652
Proteus-Like Syndrome
Open bite, Polycystic ovaries, Bronchogenic cyst, Abnormality of the parathyroid gland, Splenomeg... ORPHA:2969
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Tricuspid regurgitation, Anemia, Leukopenia, Pulmonary arterial hyperte... ORPHA:505248
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Pleural effusion, Chylous ascite... ORPHA:90363
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Vasculitis in the skin, Generalized lymphadenopathy, Neutropenia, Leuko... ORPHA:50918
Felty Syndrome
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Anemia, Sinusitis, Lymp... ORPHA:47612
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Rheumatoid factor positive, Splenomegaly,... OMIM:618852
Sézary Syndrome
Erythroderma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Hepatomegaly, Splenomeg... ORPHA:3162
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Di... OMIM:616050
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... OMIM:613779
Lysinuric Protein Intolerance
Proteinuria, Argininuria, Anemia, Leukopenia, Hyperlysinuria, Hemophagocytosis, Cirrhosis, Abnorm... ORPHA:470
Tempi Syndrome
Abnormality of the kidney, Increased hematocrit, Intracranial hemorrhage, Polycythemia, Increased... ORPHA:284227
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Pleuritis, Cerebral ischemia, Sinusitis, Renal insufficiency,... ORPHA:900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
X-Linked Agammaglobulinemia
Skin rash, Osteomyelitis, Recurrent pneumonia, Abnormal lung morphology, Autoimmunity, Chronic ot... ORPHA:47
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Autoimmunity, Increased circulating ... ORPHA:411593
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Angiostrongyliasis
Increased circulating IgM level, Increased circulating specific IgE antibody, Hypereosinophilia, ... ORPHA:74
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity, Inflammat... ORPHA:90159
Sweet Syndrome
Inflammation of the large intestine, Pustule, Small vessel vasculitis, Abnormal serum interleukin... ORPHA:3243
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hypothyroidism, Hepatic cysts, Membranous nep... OMIM:618999
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Chronic otitis media... ORPHA:33355
Zika Virus Disease
Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Thrombocytopenia, ... ORPHA:448237
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Decreased circulating ACTH level, Adrenocorticotr... ORPHA:293978
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Abnormality of the philtrum, Abnormality of the ... ORPHA:3409
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Conjunctival telangiectasia, Recurrent bronc... OMIM:208900
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla... OMIM:300291
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, E... ORPHA:634
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Hep... OMIM:617591
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Autoimmunity, Villous atrophy, Delayed ... OMIM:614162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Panh... ORPHA:79124
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Jaundice, Palmar telangiectasia, Renal insufficiency, D... ORPHA:171
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Autoimmune Polyendocrinopathy Type 4
Xerostomia, Leukopenia, Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopeni... ORPHA:227990
Gaucher Disease Type 1
Cirrhosis, Hematuria, Increased circulating antibody level, Pulmonary arterial hypertension, Bili... ORPHA:77259
Isolated Agammaglobulinemia
Skin rash, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, O... ORPHA:229717
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Budd-Chiari syndrome, Renal insufficiency, Syst... ORPHA:49041
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Intermittent thrombocytopenia, J... OMIM:313900
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Autoimmune Polyendocrinopathy Type 3
Xerostomia, Leukopenia, Autoimmune hypoparathyroidism, Non-caseating epithelioid cell granulomato... ORPHA:227982
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Eczema, Bone marrow h... OMIM:618116
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Recurrent pharyngitis, Pleuritis, Pericarditis, Leukocytosis, Orchitis, U... ORPHA:32960
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Igg4-Related Pachymeningitis
Abnormal lung morphology, Lymphadenitis, Increased circulating IgG4 level, Complement deficiency,... ORPHA:449427
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Neutropenia, Maculopapular exanthema, Abnormality of tumor necrosis factor secretion, ... ORPHA:540
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Duodenitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Blepharitis OMIM:614328
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased specific antibody response to vaccination, Decreased proportion of CD4-positive helper ... ORPHA:221139
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Increased circulating antibody le... ORPHA:48104
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinu... OMIM:616576
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent upper respiratory tract infections, Viral hepatitis, Villous atrophy,... OMIM:209920
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Lymphadenitis, Leukocytosis, Oral ulcer, Increase... OMIM:260920
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Microscopic Polyangiitis
Peritonitis, Skin rash, Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Gastrointestina... ORPHA:727
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Tick-Borne Encephalitis
Increased circulating IgM level, Myelitis, Leukocytosis, Abnormality of serum cytokine level, Thr... ORPHA:297
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Palmoplantar pustulosis, Anemia, Vasculitis, Psor... ORPHA:324964
Polymyositis
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Pulmonar... ORPHA:732
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Mesangial hypercellularity, Hem... OMIM:616414
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Decreased serum testosterone concentration, Splenomegaly,... OMIM:201100
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Increased circulating IgM level, Orthostatic hypotensio... ORPHA:186
Vici Syndrome
Cutaneous anergy, Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:242840
Leukocyte Adhesion Deficiency
Peritonitis, Hyperinsulinemic hypoglycemia, Bronchiectasis, Recurrent urinary tract infections, P... ORPHA:2968
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decr... OMIM:608709
Multiple Myeloma
Acute kidney injury, Decreased circulating antibody level, Pleural effusion, Nephropathy, Abnorma... ORPHA:29073
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Reduced ejection fraction, Intestinal perforation, Renal amyloidosis, ... ORPHA:314652
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Anti-thyroid peroxidase antibody positivity, Anti-thy... OMIM:615577
Pneumocystosis
Chronic oral candidiasis, Interstitial pneumonitis, Parenchymal consolidation, Increased circulat... ORPHA:723
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Anal stenosis, Auto... OMIM:251260
Legionnaires Disease
Hematuria, Pericarditis, Jaundice, Myocarditis, Renal insufficiency, Lymphadenopathy, Endocarditi... ORPHA:549
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Hematuria, Antineutrophil antibody positivity, Pulmonary fibrosis, Au... ORPHA:90060
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Hermansky-Pudlak Syndrome 2
Carious teeth, Neutropenia, Reduced natural killer cell activity, Long philtrum, Chronic oral can... OMIM:608233
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Decreased circulating IgG level, Neutropenia, Shock OMIM:600351
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Panniculitis, Increased circulating interleukin 6, Cystic acne, Anemia, ... OMIM:608068
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:66628
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Hypotension, Pneumonia, Abnormality of tumor necrosis factor se... ORPHA:70578
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... ORPHA:93552
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Recurre... ORPHA:3226
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Acne inversa, Leukocytosis, Decreased circulating antibody level, ... OMIM:233600
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Abnormal lung morphology, Hematuria, Urethral obstruction, Lympha... ORPHA:2035
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hypogonadism, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume,... OMIM:615234
Behçet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Pulmonary embolism, Cerebral... ORPHA:117
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased proportion of... ORPHA:179494
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Pharyngalgia, Splenomegaly, Recurrent aphthous stomatitis, Erythema nodo... OMIM:611762
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Abn... ORPHA:100026
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Osteoarthritis, Lymphadenopathy, Asc... ORPHA:342
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Patent ductus arteriosus, Neutropenia, Anemia, Leukopenia, Pulmonary arterial hyp... OMIM:612541
Schimke Immunoosseous Dysplasia
Bulbous nose, Focal segmental glomerulosclerosis, Lymphopenia, Arteriosclerosis, Elevated circula... OMIM:242900
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Pulmonary arterial hypertension, Eczema, Renal arte... ORPHA:391487
Adult-Onset Still Disease
Skin rash, Pleuritis, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepat... ORPHA:829
Cogan Syndrome
Thrombocytosis, Scleritis, Aortic regurgitation, Leukocytosis, Large vessel vasculitis, Uveitis, ... ORPHA:1467
Hereditary Orotic Aciduria
Patent ductus arteriosus, Aminoaciduria, Abnormality of the ureter, Wide nasal bridge, Impaired T... ORPHA:30
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Hydroureter, Ureteral duplication, High, narrow palate, Cardiomyopathy, Macroglos... ORPHA:373
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Congestive heart failure, Cardiomegaly,... OMIM:269920
Transcobalamin Ii Deficiency
Abnormality of the mouth, Neutropenia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, D... OMIM:275350
Bloom Syndrome
Skin rash, Recurrent urinary tract infections, Pneumonia, Telangiectasia, Otitis media, Uveitis, ... ORPHA:125
Bloom Syndrome
Cryptorchidism, Agenesis of maxillary lateral incisor, Facial telangiectasia in butterfly midface... OMIM:210900
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Kawasaki Disease
Skin rash, Pericarditis, Jaundice, Myocarditis, Ascending tubular aorta aneurysm, Cervical lympha... ORPHA:2331
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Adrenal insufficiency, Hep... OMIM:609981
Pulmonary Fibrosis, Idiopathic
Cirrhosis, Pulmonary fibrosis, Alveolar cell carcinoma, Increased circulating antibody level, Ele... OMIM:178500
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Neutropenia, Colitis, Eczema, Decreased c... OMIM:608809
Omenn Syndrome
Autoimmunity, Leukocytosis, Abnormal lymphocyte morphology, Thyroiditis, Hypothyroidism, Lymphade... ORPHA:39041
Juvenile Arthritis
Leukocytosis, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Dermatomyositis
Gastrointestinal stroma tumor, Arrhythmia, Pericarditis, Pulmonary fibrosis, Autoimmunity, Sinus ... ORPHA:221
Pauci-Immune Glomerulonephritis
Acute kidney injury, Glomerular sclerosis, Macroscopic hematuria, Cytoplasmic antineutrophil anti... ORPHA:93126
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating IgG level, ... OMIM:256040
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Enamel hypoplasia, Cirrhosis, Hyperechogenic kidneys, Decrea... OMIM:614576
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Myeloma, Multiple
Paraproteinemia OMIM:254500
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Increased circulating antibody level, Arthritis, ... ORPHA:69126
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Short philtrum, Autoimmunity, Hypothyroidism, Hashimoto thyroiditis, Choanal atresia, Pancytopeni... OMIM:613385
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arthritis, IgA dep... OMIM:178610
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Cutaneous Small Vessel Vasculitis
Abnormal oral cavity morphology, Skin rash, Recurrent skin infections, Vasculitis ORPHA:889
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Systemic Sclerosis
Narrow mouth, Pericarditis, Acute kidney injury, Abnormal esophagus morphology, Chronic kidney di... ORPHA:90291
Alveolar Echinococcosis
Abnormality of mesentery morphology, Cutaneous abscess, Pancreatic cysts, Increased circulating a... ORPHA:284
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Immunoglobulin A Deficiency 1
Autoimmunity, Recurrent respiratory infections, Malabsorption, Decreased circulating IgA level OMIM:137100
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Cherry red spot of the macula, Recurrent re... ORPHA:796
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Subarachnoid hemorrhage, Recurrent sinopulmonary infections, Cerebral vasculit... OMIM:243700
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Complement Component C1R/C1S Deficiency
Recurrent bronchitis, Autoimmunity, Discoid lupus rash, Complement deficiency, Nephritis, Arthritis OMIM:216950
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Japanese Encephalitis
Increased circulating IgM level, Excessive salivation, Increased circulating antibody level, Ence... ORPHA:79139
Giant Cell Arteritis
Renal insufficiency, Abdominal aortic aneurysm, Glossitis, Pericarditis, Arrhythmia, Hematuria, R... ORPHA:397
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... ORPHA:760
Complement Factor I Deficiency
Renal insufficiency, Pyelonephritis, Decreased serum complement factor B, Decreased serum complem... OMIM:610984
Syndromic Diarrhea
Panhypogammaglobulinemia, Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Cirrhos... ORPHA:84064
Blau Syndrome
Skin rash, Pericarditis, Retrobulbar optic neuritis, Xerostomia, Anemia, Pulmonary arterial hyper... ORPHA:90340
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Biliary tract abnormality, Neoplasm of the liver, Autoimmun... ORPHA:90003
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Hennekam Syndrome
Narrow mouth, Erysipelas, Lymphangioma, Lymphadenopathy, Depressed nasal bridge, Abnormality of d... ORPHA:2136
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Roifman Syndrome
Long philtrum, Recurrent pneumonia, Noncompaction cardiomyopathy, Downturned corners of mouth, Un... OMIM:616651
Babesiosis
Recurrent pharyngitis, Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial inf... ORPHA:108
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Underdeveloped nasal alae, Leukocytosis, ... OMIM:610377
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Proteus Syndrome
Carious teeth, Abnormal dental enamel morphology, Ovarian neoplasm, Bronchogenic cyst, Pulmonary ... ORPHA:744
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Thymic Tumor
Pericarditis, Autoimmunity, Neuroendocrine neoplasm, Neoplasm of the thymus, Dysgammaglobulinemia... ORPHA:100100
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated systolic blood pressure, Au... ORPHA:275555
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Good Syndrome
Bronchiectasis, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Recurrent... ORPHA:169105
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased serum compleme... OMIM:613913
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High palate, High, narrow palate, Renal insufficiency, Glomerulonephritis OMIM:248760
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Abnormality of the ureter, Hypospadias, Aplasia/Hypoplasia o... ORPHA:1046
Classic Hodgkin Lymphoma
Skin rash, Hepatomegaly, Splenomegaly, Hemoptysis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Xerostomia, Leukopenia, Myocarditis, Pulmonary arterial hyper... ORPHA:809
Neonatal Lupus Erythematosus
Skin rash, Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, A... ORPHA:398124
Localized Scleroderma
Esophagitis, Abnormality of the kidney, Arrhythmia, Autoimmunity, Hashimoto thyroiditis, Abnormal... ORPHA:90289
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Autoimmunity, Subarachnoid hemorrhage, Arteriosclero... ORPHA:494424
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Icf Syndrome
Macroglossia, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Prot... ORPHA:2268
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
High palate, Chronic kidney disease, Glomerulonephritis ORPHA:2172
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Recurrent upper respiratory tract infect... ORPHA:508542
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Livedoid Vasculopathy
Systemic lupus erythematosus, Graves disease, Ischemic stroke, Venous insufficiency, Autoimmunity... ORPHA:542643
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Decreased circulating IgG2 level, Recurrent respiratory in... ORPHA:2571
Nephrotic Syndrome, Type 11
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Smooth philtrum, Renal tubu... OMIM:616730
Galloway-Mowat Syndrome 7
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Smooth philtrum, Renal tubu... OMIM:618348
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, High palate, Minimal ch... OMIM:301006
Erythema Elevatum Diutinum
Increased circulating antibody level, Vasculitis in the skin, Skin rash ORPHA:90000
Popov-Chang syndrome
Long philtrum, Decreased circulating antibody level, Lymphopenia, Recurrent otitis media, Thick v... OMIM:618428
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Autoimmunity, ... OMIM:243150
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Cerebral vasculitis ORPHA:83601
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Pulmonary hemorrhage, Erythrocyte cylindr... OMIM:233450
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Pulmonary infiltrates, Proteinuria, Leukocytosis, Congeni... ORPHA:77297
Say-Barber-Miller Syndrome
Prominent nasal bridge, Cryptorchidism, Thin vermilion border, Carious teeth, Tooth malposition, ... ORPHA:3132
Subcorneal Pustular Dermatosis
Pustule, Systemic lupus erythematosus, Autoimmunity, Hypothyroidism, Rheumatoid arthritis, Increa... ORPHA:48377
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Vacuolated lymphocytes, Decreased circulating antibody level, Hepatomegaly, Gingiva... OMIM:248500
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Enlarged kidney, Hypertension, Memb... ORPHA:251004
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Chronic lymphatic leukem... ORPHA:90033
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Hypertension, Cholestasis, Hepatomegaly, Nephropathy, Nephrotic syndrome, S... OMIM:105200
Immunodeficiency 58
Dysuria, Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis... OMIM:618131
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly, Adren... ORPHA:75233
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Leukopenia, Bone marrow hypoc... OMIM:615190
Sarcoidosis
Bronchiectasis, Maculopapular exanthema, Hypercalciuria, Anemia, Leukopenia, Renal insufficiency,... ORPHA:797
Hereditary Folate Malabsorption
Glossitis, Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract in... ORPHA:90045
Osteopetrosis, Autosomal Recessive 7
Recurrent pneumonia, Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreas... OMIM:612301
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Gaucher Disease Type 3
Hematuria, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Delayed puberty,... ORPHA:77261
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Acute kidney injury, Focal segmental glomerulosclerosis... ORPHA:567548
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Systemic Mastocytosis With Associated Hematologic Neoplasm