Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
Synonyms:
2410099E07Rik,  p110delta,  2610208K16Rik

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 Pik3cd 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 Pik3cd by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pik3cd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Increased circulating interleukin 6 concentration, Decreased circulating IgG l... OMIM:618944
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Thrombocythemia 1
Thrombocytosis, Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet agg... OMIM:187950
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Recurrent infec... OMIM:618982
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Chronic oral cand... OMIM:300400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circulatin... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... OMIM:605258
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616911
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp... ORPHA:277
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 25
Recurrent candida infections, Autoimmune hemolytic anemia, Increased circulating IgA level, Eosin... OMIM:610163
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:615767
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Immunodeficiency 102
Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lym... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Tube feeding, Lymphopenia, Decreased circulating IgG level, Olig... OMIM:619510
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract OMIM:137100
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen... ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level... ORPHA:169154
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Lymphocytosis, Leuk... OMIM:619652
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Recurrent bacterial infections, Decreased circulating total IgM, Eos... OMIM:243700
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent upper and lower respiratory tract infections, Recurrent fungal i... ORPHA:331206
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Rec... OMIM:615285
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent... OMIM:619632
Immunodeficiency 48
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Hepatomegaly, Splenomegaly OMIM:269840
Secretory Component Deficiency
Secretory IgA deficiency OMIM:269650
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... ORPHA:276
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recur... OMIM:619752
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre... OMIM:618534
Immunodeficiency 52
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... OMIM:617514
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia OMIM:251190
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... OMIM:147060
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody level, Intermittent ... OMIM:616740
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... OMIM:606367
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:173420
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy... ORPHA:100025
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Diarrhea, B lymphocytopenia, Inflammation of the large intestine, T lymphoc... OMIM:618108
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... OMIM:187800
Immune Deficiency Disease
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating total IgM OMIM:242850
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level OMIM:615592
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... OMIM:202700
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Osteoarthritis Susceptibility 3
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... OMIM:607850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Decreased circulating IgA level, Sinusitis, Macroglossia, Diarrhea, T lymphocytope... OMIM:242860
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia OMIM:193670
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level, Recurrent respiratory infections, Recurrent otitis... OMIM:618523
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function ORPHA:231393
Bleeding Disorder, Platelet-Type, 21
Eczema, Impaired platelet aggregation, Psoriasiform dermatitis, Thrombocytopenia OMIM:617443
Bone Marrow Failure Syndrome 5
Anemia, Decreased circulating antibody level, Pure red cell aplasia OMIM:618165
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Decreased circulating IgA level, Chronic oral candidiasis, Decreased c... ORPHA:275
Reticular Dysgenesis
Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormality of neutrophils,... ORPHA:33355
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:275350
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Glycoprotein Storage Disease
Gout OMIM:232900
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Immunodeficiency, Common Variable, 10
Onychomycosis, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent oral h... OMIM:615577
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... OMIM:618986
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis OMIM:216950
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Decreased circulating IgG lev... OMIM:308240
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Neutropenia in presence of anti-neutro... OMIM:613179
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... OMIM:600351
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... OMIM:619313
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia, Recurrent skin infections OMIM:614171
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Chondrocalcinosis 2
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis OMIM:118600
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Lymphopenia ORPHA:1116
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Absent isohemagglutinin level, Increased p... OMIM:615559
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... OMIM:600802
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... OMIM:618116
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Jaundice, Decreased circulating antibody level, Decreased p... OMIM:301045
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cell... OMIM:619381
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Uveitis, Bone marrow hypoce... ORPHA:3261
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, L... OMIM:618935
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, Intestinal atresia,... OMIM:243150
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Mac... OMIM:155100
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Recurrent infections, Hypereosi... OMIM:256500
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, Lymphopenia, Decreased circulating IgA level, Intussusception... ORPHA:90363
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Immunodeficiency 23
Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe varicell... OMIM:615816
Lymphoproliferative Syndrome 2
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Hemophagocytosis, Sple... OMIM:615122
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... OMIM:615190
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Recurrent sinusitis, Decreased circulating antibody level, Recurrent pneumonia,... OMIM:616576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level OMIM:614069
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level, Feeding difficulties, Recu... OMIM:617744
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Vil... OMIM:209920
Immunodeficiency 17
Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocyto... OMIM:615607
Okur-Chung Neurodevelopmental Syndrome
High palate, Decreased circulating IgA level, Constipation, Decreased circulating IgG level, Feed... OMIM:617062
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hepatosp... OMIM:615952
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Xq28 (MECP2) duplication
Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feeding difficulties in i... DECIPHER:45
Wiskott-Aldrich Syndrome
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... OMIM:301000
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... OMIM:619374
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae OMIM:609655
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... OMIM:619858
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, Recurrent otit... OMIM:618495
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis OMIM:215250
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Decreased circulating IgG level, Elevated circulati... OMIM:613011
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
Peeling Skin Syndrome 1
Eosinophilia, Increased circulating IgE level OMIM:270300
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections ORPHA:99811
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... ORPHA:449400
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed ossification of carpal... OMIM:105835
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Gastroesophageal reflux, Decreased circulating IgG level, Decrea... OMIM:620040
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Abdominal pain, Skin rash, Diarrhea,... OMIM:617099
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... OMIM:601399
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Feeding dif... OMIM:613385
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Abnormal number of alpha granules, Impaired throm... OMIM:139090
Autosomal Agammaglobulinemia
High palate, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Diarr... ORPHA:33110
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... ORPHA:125
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Candida esophagitis, Leukocytosis, Hypochromic anemia, Increased ... OMIM:618213
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Autoimmune thrombocytopenia, Ne... OMIM:304790
X-Linked Agammaglobulinemia
Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Abnormality of the lymphatic sy... ORPHA:47
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Hypoplastic spleen, Feeding difficulties ORPHA:89844
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Impaired platelet aggregation OMIM:605735
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Thrombocytopenia, Erythroderma, Jaundice... ORPHA:540
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammation of th... OMIM:608809
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Lambert Syndrome
Decreased circulating antibody level, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... ORPHA:411696
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarr... OMIM:212750
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Myeloma, Multiple
Paraproteinemia OMIM:254500
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level, Recurrent infections, Recu... ORPHA:634
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia OMIM:277480
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Anemia, Aspiration pneumonia, Leukopenia, Esophageal strict... OMIM:617053
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Reduced natural killer cell activity, ... OMIM:616050
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level, Recurrent infections OMIM:616910
Mogs-Cdg
Hydrocele testis, High palate, Decreased circulating IgA level, Hepatomegaly, Decreased circulati... ORPHA:79330
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Pyloric stenosis, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Decreased circulating IgA level, Hepatomegaly, Constipation, Feeding difficulties, Splenom... OMIM:613327
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin... OMIM:226300
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophilia, Diarrhea, Gloss... ORPHA:90045
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Cystic Fibrosis
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased circulating antibody le... ORPHA:586
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Hypereosi... ORPHA:2902
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Recurrent skin infections, Dia... ORPHA:169105
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C... ORPHA:911
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Atrophic gastritis, Xerostomia, Autoimm... ORPHA:227990
Ataxia-Telangiectasia
Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating IgG level, Hypopla... OMIM:208900
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia, Feeding difficulties OMIM:616638
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Recurrent respiratory infections, Hypoalbuminemia OMIM:241600
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Panhypogammaglobulinemia, Recurrent sinusitis,... OMIM:615207
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Intestinal polyp, Cryptorchidism, Protuberant abdomen, Lactose i... ORPHA:457485
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level, Recurrent infections, Recurrent respiratory infect... ORPHA:2314
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Recurrent skin infections,... OMIM:233600
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Icf Syndrome
Malabsorption, Lymphopenia, Macroglossia, Abnormality of neutrophils, Protruding tongue, Decrease... ORPHA:2268
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Arthritis, ... ORPHA:343
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Sterile abscess, Hepatosplenomegaly, Arthritis, Acne, Thrombocytosis, Micro... OMIM:604416
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Uve... OMIM:617388
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... ORPHA:1572
Folate Malabsorption, Hereditary
Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Neutropenia, Thrombocytopen... OMIM:229050
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Angiostrongyliasis
Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level, Lymphopenia ORPHA:100
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Rheumatoid arthritis, Leukopenia, Atrophic gastritis, Xerostomia, Autoimm... ORPHA:227982
Aspergillosis
Unusual CNS infection, Invasive pulmonary aspergillosis, Eosinophilia, Meningitis, Infectious enc... ORPHA:1163
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Esophagitis, Eosinophilic, 1
Dysphagia, Eosinophilia, Vomiting, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Eosinophilia, Vomiting, Esophagitis OMIM:613412
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Hepatomegaly, Pancytopenia ORPHA:251009
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropi... ORPHA:37042
Thrombocytopenia 1
Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... OMIM:313900
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Graft Versus Host Disease
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Hemophagocytosis, Abdominal pain... ORPHA:39812
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Abnormal serum interferon-gamma level, Anemia, Hepatosplenomegaly, Pan... ORPHA:79124
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Decreased circulating IgA level, Lymphopenia, Cryptorchidism, ... OMIM:620005
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Steatorrhea, Diar... OMIM:212065
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Feeding difficulties, Pyloric stenosis, Neutropenia... OMIM:616395
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... ORPHA:98850
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia OMIM:616744
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hypoglossia With Situs Inversus
High palate, Feeding difficulties in infancy, Malnutrition, Microglossia, Polysplenia, Asplenia OMIM:612776
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Arthritis, Pericar... OMIM:152700
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... ORPHA:26790
Familial Calcium Pyrophosphate Deposition
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo... ORPHA:1416
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thr... OMIM:603552
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Tularemia
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... ORPHA:3392
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Increased circulating IgA level, Pustule, Skin rash, Leukopenia, Follicular hyperpla... OMIM:615934
Roifman Syndrome
Eosinophilia, Eczema, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent pneumon... ORPHA:353298
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Acquired Partial Lipodystrophy
Decreased serum complement C3, Lymphocytosis ORPHA:79087
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Hepatosplenomegaly, Microcytic anemia, Decreased circulating antibody level, Recurre... OMIM:619750
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Otitis media, D... ORPHA:420741
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, Decreased circulating IgG... ORPHA:508533
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Gracile Bone Dysplasia
Ankyloglossia, Hypoplastic spleen, Asplenia OMIM:602361
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Lymphocytosis, Abd... OMIM:301074
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Hepatomegaly, Coombs-positive hemolytic anemia... OMIM:614034
Immunodeficiency 58
Bronchiectasis, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori... OMIM:618131
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, H... ORPHA:2137
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Severe periodontitis, Abnormality of the sma... ORPHA:51636
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Primary Biliary Cholangitis
Increased circulating IgA level, Abdominal distention, Hepatic failure, Cirrhosis, Hepatocellular... ORPHA:186
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Recurrent upper respiratory tract infections, Severe B lymphocytopenia, Autoimmune thromb... ORPHA:293978
Thymic Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Dysgammaglobulinemia, Dysphagia, Pericarditis ORPHA:100100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Ebola Hemorrhagic Fever
Melena, Increased circulating antibody level, Lymphopenia, Abdominal pain, Maculopapular exanthem... ORPHA:319218
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis ORPHA:98827
Dubowitz Syndrome
High palate, Decreased circulating IgA level, Velopharyngeal insufficiency, Gastroesophageal refl... OMIM:223370
Familial Mediterranean Fever
Crohn's disease, Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Episodic abdom... OMIM:249100
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Arthritis, Malar rash, Antinuclear antibody positivity OMIM:609939
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... ORPHA:699
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Sjogren Syndrome
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Recurrent tonsillitis, Cerv... ORPHA:2686
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Decrea... OMIM:210900
Lead Poisoning
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Abnormality of ... ORPHA:330015
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abno... ORPHA:3226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Eczema, Esophageal varix, Pancytopenia, Bone marrow hypocellularity, Feeding diffic... OMIM:615688
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Prolonged bleeding tim... OMIM:614074
Thymoma
Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Apl... ORPHA:99867
Tempi Syndrome
Polycythemia, Increased circulating IgG level, Increased hematocrit ORPHA:284227
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive ORPHA:79099
Chilblain Lupus
Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S... ORPHA:90280
Von Willebrand Disease, Type 1
Joint hemorrhage, Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic dermatitis, Membranous ... OMIM:618999
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Lymphopenia, Hepatic cysts OMIM:617425
C3 Glomerulopathy
Decreased serum complement C3, Decreased serum complement C4, Elevated circulating creatinine con... ORPHA:329918
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Recurrent otitis media OMIM:618948
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Systemic lupus erythematosus, Pustule, Rheumatoid arthritis... ORPHA:48377
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Complement deficiency, Eosinophilia, Increased circulating ... ORPHA:449432
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia OMIM:300835
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Abdominal pain, Complement deficiency, Monoclonal elevation of circul... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Limitation of joint mobility ORPHA:399180
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... ORPHA:29073
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... OMIM:617718
Brucellosis
Hepatomegaly, Vomiting, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Knee osteoarthritis,... ORPHA:1304
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Popov-Chang syndrome
Decreased circulating antibody level, Lymphopenia OMIM:618428
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... ORPHA:54251
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Abdominal pain, Skin rash, Myocarditis, A... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Imp... OMIM:614576
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Abnormality of the ankles, Uveitis, Autoimmunity, Knee oste... ORPHA:85410
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Decreased circulating total... ORPHA:83617
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Sinusitis, Lymphopenia, Hepatomegaly, Panniculitis, Splenom... OMIM:617591
Macrophage Activation Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:158061
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... ORPHA:562639
Sitosterolemia 1
Thrombocytopenia, Impaired platelet aggregation, Giant platelets, Arthritis OMIM:210250
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Reduced natural killer... OMIM:608233
Nijmegen Breakage Syndrome
Anal atresia, Sinusitis, Recurrent infection of the gastrointestinal tract, Cleft palate, Otitis ... OMIM:251260
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Zika Virus Disease
Thrombocytopenia, Increased circulating IgM level ORPHA:448237
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Gastroesophageal reflux, High, narrow palate... ORPHA:369837
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... ORPHA:210122
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Hepatomegaly OMIM:606056
Prolidase Deficiency
Increased circulating antibody level, Splenomegaly, Recurrent pneumonia, Recurrent infections, An... OMIM:170100
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Gas... ORPHA:79324
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Rhinitis, Abdomina... ORPHA:486
Schimke Immunoosseous Dysplasia
Lymphopenia, Thrombocytopenia, Pancytopenia, Decreased circulating antibody level, Abnormal immun... OMIM:242900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... OMIM:240300
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Elevated circulating C-reactive protein concentration, Decrease... ORPHA:449395
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconj... OMIM:269200
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Congenital Analbuminemia
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, ... ORPHA:86816
Trichothiodystrophy 5, Nonphotosensitive
Decreased circulating antibody level OMIM:300953
Cowden Syndrome 1
Hydrocele testis, High palate, Thyroiditis, Lymphopenia, Ovarian cyst, Furrowed tongue, Decreased... OMIM:158350
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count, Chronic oral candidiasis, Pneumo... ORPHA:723
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Lymphopenia, Splenomegaly, Hepatomegaly, Cir... ORPHA:84064
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopapular exanthema, Hep... OMIM:619644
Sandifer Syndrome
Gastroesophageal reflux, Hematemesis, Hiatus hernia, Feeding difficulties, Episodic vomiting, Eso... ORPHA:71272
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa... ORPHA:79078
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Recurrent bronchopulmonary infections, Splenomegaly, Sepsis, Leukopenia, Recurrent p... OMIM:617303
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... OMIM:208540
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... ORPHA:48435
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Cryoglobulinemia, Diarrhea, Normocytic anemi... ORPHA:33226
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Abscess, Vomiting, Cholestasis, Myocar... ORPHA:810
Monosomy 18Q