Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:619924 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... |
OMIM:300400 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Immunodeficiency 102 |
|
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... |
OMIM:301082 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... |
OMIM:269840 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity, Recurrent infectio... |
OMIM:609529 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, E... |
OMIM:616005 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... |
OMIM:613500 |
Immunodeficiency 64 |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... |
OMIM:618534 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... |
OMIM:312863 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Neoplasm, Decreased circulating IgG level, Hepatomegaly, Splenom... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... |
OMIM:618944 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop... |
OMIM:617241 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... |
OMIM:616636 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... |
ORPHA:331206 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Tu... |
OMIM:619510 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Nijmegen Breakage Syndrome |
|
Recurrent infection of the gastrointestinal tract, Cleft palate, Otitis media, Diarrhea, B lympho... |
OMIM:251260 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o... |
ORPHA:276 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... |
OMIM:616100 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... |
OMIM:614700 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... |
ORPHA:277 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Rheum... |
ORPHA:3261 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Decreased circulat... |
ORPHA:275 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... |
OMIM:618261 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Ataxia-Telangiectasia |
|
Failure to thrive, Neoplasm, Lymphopenia, Short stature, Elevated hepatic transaminase, Decreased... |
ORPHA:100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... |
OMIM:300853 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... |
OMIM:606367 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Short stature, Neutropenia |
OMIM:610798 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Selective Igm Deficiency |
|
Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cancer, O... |
ORPHA:331235 |
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 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Immunoerythromyeloid Hypoplasia |
|
Lymphoproliferative disorder, Decreased circulating IgG level, Absent leukocyte alkaline phosphat... |
OMIM:242880 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema... |
OMIM:243700 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
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 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recur... |
OMIM:619752 |
Immunodeficiency 54 |
|
Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomeg... |
OMIM:609981 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, An... |
OMIM:618048 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... |
ORPHA:911 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Malabsorption, Decreased circulating IgA level, Sinusitis, Macroglossia, Short... |
OMIM:242860 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Smooth mu... |
OMIM:603909 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... |
OMIM:605258 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... |
ORPHA:125 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... |
ORPHA:572 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, T-cell lymphoma, Intrauterine growth retardation, Bloody diarrhea, Colonic atresia,... |
OMIM:243150 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anem... |
ORPHA:47 |
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 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Lymphopenia, Decreased circulating IgG leve... |
ORPHA:90362 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... |
OMIM:615559 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity |
OMIM:182410 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... |
ORPHA:2643 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... |
OMIM:608106 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... |
OMIM:153600 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Ataxia-Telangiectasia |
|
Non-Hodgkin lymphoma, Leukemia, Decreased circulating IgA level, T lymphocytopenia, Female hypogo... |
OMIM:208900 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... |
OMIM:614878 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... |
OMIM:251190 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... |
OMIM:300755 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Diarrhea, Recurrent otitis media, Agammaglobulinemia |
OMIM:613501 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Short stature, Small for gestational age, Macronodular cirrhosis... |
OMIM:215250 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Panhypogammaglob... |
OMIM:601457 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Short statu... |
OMIM:613385 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... |
OMIM:301081 |
Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Anal atresia, Failure to thrive, Short stature, Bone marrow... |
OMIM:605724 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr... |
OMIM:618495 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Anoperineal fistula, Chroni... |
OMIM:615607 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... |
OMIM:610163 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Pyloric stenosis, Abnormality of neutrophi... |
ORPHA:381 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hemophagocytosis, Elevated circulating aspartate aminotransferase concentration, Th... |
ORPHA:158061 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Gastrointesti... |
ORPHA:2137 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... |
ORPHA:33110 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... |
OMIM:304790 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, ... |
OMIM:308240 |
Bloom Syndrome |
|
Intrauterine growth retardation, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:210900 |
Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Chromosomal breakage induced by cro... |
OMIM:609054 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int... |
ORPHA:100025 |
Immunoglobulin A Deficiency 1 |
|
Malabsorption, Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastroin... |
OMIM:137100 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Short stature, Recurren... |
OMIM:617744 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... |
ORPHA:33355 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... |
OMIM:619381 |
Immunodeficiency 20 |
|
Reduced natural killer cell activity, Reduced natural killer cell count |
OMIM:615707 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... |
ORPHA:217390 |
Lymphoproliferative Syndrome 1 |
|
Hodgkin lymphoma, B-cell lymphoma, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, L... |
OMIM:613011 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... |
OMIM:619632 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Anti-thyroid peroxidase antibody positivi... |
ORPHA:37042 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... |
OMIM:300972 |
Turcot Syndrome With Polyposis |
|
Melena, Constipation, Hepatoblastoma, Diarrhea, Soft tissue neoplasm, Vomiting, Hematochezia, Bas... |
ORPHA:99818 |
Fanconi Anemia, Complementation Group N |
|
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ... |
OMIM:610832 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
Pgm3-Cdg |
|
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chr... |
ORPHA:443811 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... |
OMIM:615285 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Icf Syndrome |
|
Malabsorption, Lymphopenia, Macroglossia, Short stature, Abnormality of neutrophils, Decreased ci... |
ORPHA:2268 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
ORPHA:83471 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Decreased circulating IgA level, Intrauterine growth retardation, Decreased ci... |
OMIM:620040 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abnormality of chr... |
OMIM:614082 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... |
OMIM:209920 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Eczema, Diarrhea, Vomiting, Macrocytic anemia, Weight loss, Decreased circulating Ig... |
OMIM:212750 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I... |
ORPHA:37748 |
Secondary Intestinal Lymphangiectasia |
|
Vomiting, Decreased circulating IgA level, Malabsorption, Intussusception, Cirrhosis, Decreased c... |
ORPHA:90363 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Maculopapular exanthem... |
ORPHA:319218 |
Wiskott-Aldrich Syndrome |
|
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal ... |
OMIM:301000 |
Hereditary Mixed Polyposis Syndrome |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Thyroid carcinoma, Intussusception, Prosta... |
ORPHA:157794 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... |
OMIM:617780 |
Q Fever |
|
Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Myocarditis, Antimitochondrial... |
ORPHA:781 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:275350 |
Blackfan-Diamond Anemia |
|
High palate, Reticulocytopenia, Increased mean corpuscular volume, Erythroid hypoplasia, Macrocyt... |
ORPHA:124 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Macrocytic anemia, ... |
ORPHA:227990 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... |
OMIM:613494 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Lymphopenia, Cryptorchidism, ... |
OMIM:620005 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... |
OMIM:615577 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level, Feeding difficulties, Large for gestational age, Rhizomelia, Cry... |
OMIM:616638 |
Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Hepatomegaly, Hemoph... |
OMIM:615122 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA l... |
OMIM:615934 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Autoimmune hypopara... |
ORPHA:227982 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stature, Hepatosplenomeg... |
OMIM:618935 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasi... |
OMIM:193670 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... |
OMIM:600903 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circula... |
OMIM:617388 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... |
OMIM:301078 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity |
OMIM:605309 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Decreased circulating IgA level, Chromosome breakage, Abnormality of the thymus, Leukemia, Abnorm... |
OMIM:208910 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Leukopenia, Eczema, Rhizomelia, Decreased circulating antibody level, Bone marrow ... |
OMIM:618116 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Okur-Chung Neurodevelopmental Syndrome |
|
High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:617062 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... |
OMIM:300310 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ... |
OMIM:618986 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... |
OMIM:600802 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hodgkin ... |
OMIM:615952 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... |
ORPHA:562639 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Immunodeficiency 11 |
|
Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Neuroendocrine Neoplasm Of Appendix |
|
Bowel urgency, Ovarian neoplasm, Hepatomegaly, Constipation, Intestinal carcinoid, Poor appetite,... |
ORPHA:100079 |
Chilblain Lupus |
|
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... |
ORPHA:90280 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Intermittent t... |
OMIM:616740 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Constipation, Feedin... |
DECIPHER:45 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Bronchiectasis, Decreased circulating total IgM, Short stature |
OMIM:615139 |
Immunodeficiency 68 |
|
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia |
OMIM:612260 |
Roifman Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Eczema, Decreased... |
ORPHA:353298 |
Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Non-Hodgkin lymphoma, Abnormal lymphocyte proliferation, W... |
ORPHA:99867 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced ... |
OMIM:617243 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Abdominal pain, Complement deficie... |
ORPHA:91139 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Diarrhea, Absence of lymph node germinal center, Panhypo... |
ORPHA:79124 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... |
ORPHA:1572 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... |
OMIM:619313 |
N Syndrome |
|
Cryptorchidism, Leukemia, Abnormality of chromosome stability, Neoplasm |
OMIM:310465 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Abdominal pain, Diarrhea,... |
OMIM:617099 |
Agammaglobulinemia 5, Autosomal Dominant |
|
High palate, Agammaglobulinemia |
OMIM:613506 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Thrombocytopenia, Erythroderma, Jaundice... |
ORPHA:540 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent otitis media, Prostatitis, Sinusitis, Decreased response to growth hormone stimulation ... |
OMIM:307200 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Malabsorption, Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Short stature, Decreased circulating antibody level, Pure red cell aplasia, H... |
OMIM:618165 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Myocarditis, A... |
ORPHA:829 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Oropharyngeal squamous... |
ORPHA:391487 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Decreased circulating IgA level, Failure to thrive, Hepatomegaly, Constipation, Feeding di... |
OMIM:613327 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Abnormal esophagus morphology, Hematological n... |
ORPHA:1163 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Failure to thrive, Gastroesophageal reflux, Hepatomegaly, Feeding difficulties, Short stature, Pa... |
ORPHA:251009 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis |
OMIM:613783 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:612301 |
Boutonneuse Fever |
|
Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhe... |
ORPHA:83313 |
Mogs-Cdg |
|
Hydrocele testis, High palate, Decreased circulating IgA level, Decreased circulating IgG level, ... |
ORPHA:79330 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Dubowitz Syndrome |
|
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Neuroblastoma, Vel... |
OMIM:223370 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Hemangioma, Volvulus, Iron deficiency anemia, Rectal prolap... |
OMIM:112200 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Feeding difficulties, Short stat... |
OMIM:616395 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Growth delay, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... |
OMIM:619858 |
Fanconi Anemia, Complementation Group S |
|
Failure to thrive, Narrow palate, Ovarian neoplasm, Chromosome breakage, Breast carcinoma, Short ... |
OMIM:617883 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,... |
ORPHA:549 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... |
OMIM:613179 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Fanconi Anemia, Complementation Group F |
|
Failure to thrive, Duodenal atresia, Cryptorchidism, Decreased response to growth hormone stimula... |
OMIM:603467 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... |
OMIM:212065 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... |
OMIM:615190 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Anorexia, Leukopenia,... |
ORPHA:507 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Capillary hemangioma, Lymphopenia, Dec... |
ORPHA:508533 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... |
ORPHA:905 |
Halothane Hepatitis |
|
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice |
OMIM:234350 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, E... |
ORPHA:3162 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Short stature, Hepatosplenomegaly, Fibroma, Microcytic anemia, Decreased circulating... |
OMIM:619750 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positiv... |
ORPHA:228426 |
Lig4 Syndrome |
|
Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Growth delay, Cryptorchidism, ... |
ORPHA:99812 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level, Recurre... |
ORPHA:2688 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Short stature, Episodic vomiting, Redu... |
OMIM:616050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T ce... |
OMIM:242700 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Ab... |
OMIM:608184 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Short stature, ... |
ORPHA:420741 |
Xeroderma Pigmentosum, Complementation Group G |
|
Growth delay, Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Bone... |
OMIM:609053 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level, Hemangioma, Intestinal polyp, Large for gestational age, Cryptor... |
ORPHA:457485 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Decreased circulating antibod... |
OMIM:616576 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Short stature, Biliary atresia, Anteriorly placed anus, Bone marrow hypocell... |
OMIM:615272 |
Hyper-Igd Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... |
OMIM:260920 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ... |
OMIM:619767 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Growth delay, Decreased circulating antibody level, Pneumonia |
OMIM:614069 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level |
OMIM:618973 |
Immunodeficiency 23 |
|
High palate, Failure to thrive, Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Rheumatoid ... |
OMIM:615816 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Cryptorchidism, Chromosome breakage |
OMIM:613390 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ... |
OMIM:614576 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... |
OMIM:608809 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level, Leukocytosis, Splenomegaly |
OMIM:618042 |
Acquired Partial Lipodystrophy |
|
Decreased serum complement C3, Lymphocytosis |
ORPHA:79087 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... |
OMIM:227645 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Lymphoproliferative disorder, Eczema, Esophageal varix, Pancytopenia, Bone marrow h... |
OMIM:615688 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Tularemia |
|
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... |
ORPHA:3392 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Intrauterine growth r... |
OMIM:615846 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Autoimmune thrombocytopenia, Chroni... |
OMIM:613496 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Lymphoproliferati... |
ORPHA:289390 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Recurrent skin infections, Dia... |
ORPHA:169105 |
Immunodeficiency 59 And Hypoglycemia |
|
High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Short stature, Recurrent s... |
OMIM:233600 |
Cowden Syndrome 1 |
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Hydrocele testis, High palate, Thyroiditis, Lymphopenia, Breast carcinoma, Fibroadenoma of the br... |
OMIM:158350 |
Graft Versus Host Disease |
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Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... |
ORPHA:39812 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
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Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Igg4-Related Aortitis |
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Increased circulating antibody level, Abdominal pain, Complement deficiency, Antinuclear antibody... |
ORPHA:449400 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:194400 |
Immunodeficiency, Common Variable, 5 |
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Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Agammaglobulinemia 1, Autosomal Recessive |
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Failure to thrive, Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent... |
OMIM:601495 |
Medulloblastoma |
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Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... |
ORPHA:616 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Peripheral primitive neuroectodermal ne... |
ORPHA:370348 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Hodgkin lymphoma, Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, S... |
OMIM:619375 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Failure to thrive, Decreased response to growth hormone stimulation test, Psoriasiform dermatitis... |
ORPHA:293978 |
Iga Pemphigus |
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Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... |
ORPHA:555905 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Cholelithiasis, Failure to thrive, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Decrease... |
ORPHA:83617 |
Brucellosis |
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Hepatomegaly, Rheumatoid factor positive, Vomiting, Myocarditis, Hypersplenism, Epididymitis, Pne... |
ORPHA:1304 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Primary Biliary Cholangitis |
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Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abdomin... |
ORPHA:186 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Tracheoe... |
OMIM:227646 |
Beta-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... |
ORPHA:848 |
Schimke Immuno-Osseous Dysplasia |
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Pancreatitis, Lymphoproliferative disorder, Impaired T cell function, Non-Hodgkin lymphoma, Abnor... |
ORPHA:1830 |
Popov-Chang syndrome |
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Failure to thrive, Gastroesophageal reflux, Lymphopenia, Feeding difficulties, Short stature, Dec... |
OMIM:618428 |
Insulin-Resistance Syndrome Type B |
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Multiple myeloma, Pneumonia, Polycystic ovaries, Increased body weight, Weight loss, Enlarged pol... |
ORPHA:2298 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophil... |
ORPHA:90045 |
Angiostrongyliasis |
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Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... |
ORPHA:74 |
Syndromic Diarrhea |
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Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Intrauterine growth retardatio... |
ORPHA:84064 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
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Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... |
OMIM:600351 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,... |
ORPHA:139402 |
Immune Deficiency Disease |
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Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Rift Valley Fever |
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Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Elevated hepatic trans... |
ORPHA:319251 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Medulloblastoma, Cleft palate, Severe failure to thrive, Short ... |
ORPHA:97297 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
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Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Ery... |
OMIM:617425 |
Alg12-Cdg |
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Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613812 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
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Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Prolidase Deficiency |
|
High palate, Increased circulating antibody level, Failure to thrive, Systemic lupus erythematosu... |
OMIM:170100 |
Schimke Immunoosseous Dysplasia |
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Lymphopenia, Small for gestational age, Protuberant abdomen, Thrombocytopenia, Pancytopenia, Disp... |
OMIM:242900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Increased circulating antibody level, Failure to thrive, Sinusitis, Lymphopenia, Hepatomegaly, Pa... |
OMIM:617591 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Elevated cir... |
ORPHA:79303 |
Mirage Syndrome |
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Decreased body weight, Lymphopenia, Cryptorchidism, Gastroesophageal reflux, Short stature, Aspir... |
OMIM:617053 |
Immunodeficiency 56 |
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Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... |
OMIM:615207 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Inflammatory Pseudotumor Of The Liver |
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Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... |
ORPHA:90003 |
Cryoglobulinemic Vasculitis |
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Hepatomegaly, Circulating immune complexes, Viral hepatitis, Splenomegaly, Abdominal pain, Cryogl... |
ORPHA:91138 |
Lambert Syndrome |
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Intrauterine growth retardation, Intrahepatic biliary atresia, Cholestasis, Decreased circulating... |
ORPHA:1296 |
Microsporidiosis |
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Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... |
ORPHA:2552 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-... |
ORPHA:217260 |
Fragile X Syndrome |
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Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 58 |
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Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... |
OMIM:618131 |
Burkitt Lymphoma |
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Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... |
OMIM:616084 |
Monosomy 9Q22.3 |
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Medulloblastoma, Feeding difficulties, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdo... |
ORPHA:77301 |
Cartilage-Hair Hypoplasia |
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Failure to thrive, Malabsorption, Disproportionate short-limb short stature, Hepatomegaly, Agangl... |
ORPHA:175 |
Thymic Tumor |
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Neuroendocrine neoplasm, Neoplasm of the thymus, Mediastinal lymphadenopathy, Autoimmunity, Dysga... |
ORPHA:100100 |
Monosomy 18Q |
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High palate, Slender build, Decreased circulating IgA level, Failure to thrive, Short stature, Se... |
ORPHA:1600 |
Spondyloenchondrodysplasia |
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Systemic lupus erythematosus, Decreased response to growth hormone stimulation test, Enchondroma,... |
ORPHA:1855 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... |
OMIM:227650 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... |
ORPHA:231226 |
Late-Onset Isolated Acth Deficiency |
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Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... |
ORPHA:199299 |
Leukodystrophy, Hypomyelinating, 24 |
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B lymphocytopenia |
OMIM:619851 |
Cystic Echinococcosis |
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Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ... |
ORPHA:400 |
Fanconi Anemia, Complementation Group L |
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Anal atresia, Intrauterine growth retardation, Chromosome breakage, Cleft palate, Feeding difficu... |
OMIM:614083 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Basal Cell Nevus Syndrome |
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Hamartomatous stomach polyps, Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, ... |
OMIM:109400 |
Whim Syndrome |
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Papilloma, Sinusitis, Lymphopenia, Cutaneous melanoma, Otitis media, Lymphadenitis, Severe period... |
ORPHA:51636 |
Zika Virus Disease |
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Conjunctivitis, Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circ... |
ORPHA:448237 |
Pyoderma Gangrenosum |
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Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... |
ORPHA:48104 |
Fanconi Anemia, Complementation Group E |
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Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... |
OMIM:600901 |
Avian Influenza |
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Lymphopenia, Abdominal pain, Leukopenia, Diarrhea, Myelitis, Vomiting, Increased circulating lact... |
ORPHA:454836 |
Netherton Syndrome |
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Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou... |
OMIM:256500 |
Familial Multinodular Goiter |
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Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Mccune-Albright Syndrome |
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Elevated circulating growth hormone concentration, Pancreatitis, Gastroesophageal reflux, Benign ... |
ORPHA:562 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Mgat2-Cdg |
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Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... |
ORPHA:79329 |
Kimura Disease |
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Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Insulin Autoimmune Syndrome |
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Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... |
ORPHA:411593 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macrophage morphology... |
ORPHA:292 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin... |
OMIM:226300 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Short stature |
ORPHA:1951 |
Immunodeficiency 31C |
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Lymphopenia, Short stature, Delayed puberty, Autoimmune hemolytic anemia, Growth delay |
OMIM:614162 |
Glioma Susceptibility 3 |
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Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Immunodeficiency 15B |
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Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea |
OMIM:615592 |
Ravine Syndrome |
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Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology |
ORPHA:99852 |
Fanconi Anemia, Complementation Group U |
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Patent ductus arteriosus, Chromosome breakage |
OMIM:617247 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Growth delay, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhe... |
ORPHA:343 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Eosinophilia, Lymphopenia |
ORPHA:2582 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis... |
OMIM:617303 |
Obesity Due To Congenital Leptin Deficiency |
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Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act... |
ORPHA:66628 |
Vici Syndrome |
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Failure to thrive, Decreased circulating IgG level, Cleft palate, Decreased T cell activation, De... |
OMIM:242840 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... |
ORPHA:158057 |
Postinfectious Vasculitis |
|
Unusual gastrointestinal infection, Rheumatoid factor positive, Increased inflammatory response, ... |
ORPHA:48435 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Hepa... |
OMIM:607765 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Duodenal atresia, Hypergonadotropic hypogonadism, Tracheoesophag... |
OMIM:300514 |
Mannosidosis, Alpha B, Lysosomal |
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Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Decreased circulating antibody ... |
OMIM:248500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act... |
ORPHA:179494 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating IgA level, Gastroesophageal reflux, High, narrow palate... |
ORPHA:369837 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level, Intrauterine growth ret... |
OMIM:616910 |
Nijmegen Breakage Syndrome |
|
Anal atresia, Neoplasm, B-cell lymphoma, Glioma, Cleft palate, Short stature, Cachexia, Rhabdomyo... |
ORPHA:647 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... |
ORPHA:3260 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Medulloblastoma, Functional intestinal obstruction |
ORPHA:199276 |
Myasthenia Gravis |
|
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... |
ORPHA:589 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh... |
ORPHA:77259 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes... |
ORPHA:436252 |
Myotonic Dystrophy 2 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Oligospermia, Hypogonadism, Ele... |
OMIM:602668 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level, Short stature |
OMIM:208600 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Lupus anticoagu... |
OMIM:616744 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Leukocytosis, Hypochromic ane... |
OMIM:618213 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Gaucher Disease |
|
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Abdominal pain, Splenomegaly, ... |
ORPHA:355 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... |
ORPHA:29073 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel... |
ORPHA:36234 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Fluctuating splenom... |
OMIM:610377 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Impaired T cell function, Low alkal... |
OMIM:201100 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Systemic lupus erythematosus, Viral hepatitis, Periportal fi... |
ORPHA:101330 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Hepatomegaly, Thrombocytopenia, Epididymitis, ... |
OMIM:256040 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Xeroderma Pigmentosum, Complementation Group F |
|
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... |
OMIM:278760 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Myositis, Keratocon... |
ORPHA:79078 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Parotitis... |
ORPHA:31202 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Steatorrhea, Short stature, Severe postnatal growth retardation, Hypoc... |
ORPHA:440713 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level, Cleft palate |
ORPHA:85317 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co... |
ORPHA:449432 |
Pneumocystosis |
|
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Interstitial pneumoniti... |
ORPHA:723 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Feeding difficulties |
ORPHA:89844 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Say-Barber-Miller Syndrome |
|
High palate, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Short s... |
ORPHA:3132 |
Aregenerative Anemia |
|
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Revesz Syndrome |
|
Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity, Intrauterine growth retardation, ... |
OMIM:268130 |
Igg4-Related Kidney Disease |
|
Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum complement C4, Rheumatoid fac... |
ORPHA:449395 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni... |
OMIM:614379 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Short stature, Leukopenia, Eczema, B lymphocytopenia, Rhizomelic arm shortening, Mye... |
ORPHA:508542 |
Hennekam Syndrome |
|
Malabsorption, Lymphangioma, Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Pulmon... |
ORPHA:2136 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Malabsorption, Lymphopenia, Abnormality of the pancreas, Agammaglobulinemia, Anemia, Aganglionic ... |
ORPHA:935 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Hemophagocytosis, Steatorrhea, Hepatic failure, Complement deficiency... |
ORPHA:470 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki... |
ORPHA:158048 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys... |
ORPHA:284 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... |
ORPHA:398063 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia,... |
OMIM:208085 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis o... |
OMIM:617542 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Liver abscess, Transient neutropenia |
OMIM:607676 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Transient hypogammaglobulinemia of infancy, Hypogonadism |
OMIM:251240 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat... |
OMIM:618278 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Short stature, Decreased circulating antibody level, Azoospermia |
ORPHA:1445 |
Fanconi Anemia |
|
High palate, Absent testis, Decreased fertility in males, Cleft palate, Tracheoesophageal fistula... |
ORPHA:84 |
Platelet Disorder, Undefined |
|
Hematological neoplasm, Thrombocytopenia, Impaired platelet aggregation, Neuroblastoma |
OMIM:173420 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... |
OMIM:614602 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Agenesis of corpus callosum, Abnormal brainstem morphology |
ORPHA:255182 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Intrauterine growth retardation, Intractable diarrhea, Hepatomegaly, Splenomeg... |
OMIM:222470 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... |
ORPHA:699 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... |
OMIM:611182 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Cryoglobulinemia, Diarrhea, Normocytic anemi... |
ORPHA:33226 |
Tick-Borne Encephalitis |
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Leukocytosis, Anorexia, Leukopenia, Myelitis, Increased circulating IgG level, Vomiting, Abnormal... |
ORPHA:297 |
Gómez-López-Hernández Syndrome |
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Abnormal brainstem morphology |
ORPHA:1532 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... |
OMIM:619573 |
Coccidioidomycosis |
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Pancreatitis, Abscess, Pneumonia, Pericarditis, Abnormal sperm morphology, Lymphadenopathy, Osteo... |
ORPHA:228123 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconj... |
OMIM:269200 |
Pontocerebellar Hypoplasia Type 10 |
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Abnormal brainstem morphology |
ORPHA:411493 |
Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level, Small for gestational age |
OMIM:300076 |
Neuronal Intestinal Pseudoobstruction |
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Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level |
ORPHA:99811 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... |
OMIM:240300 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Lymphocytosis, Ski... |
OMIM:301074 |
Wiskott-Aldrich Syndrome |
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Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... |
ORPHA:906 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Leukocyte Adhesion Deficiency Type Ii |
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Recurrent gastroenteritis, Failure to thrive, Keratitis, Narrow palate, Abnormal isohemagglutinin... |
ORPHA:99843 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... |
OMIM:610199 |