| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:613494 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... |
OMIM:616452 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... |
OMIM:615513 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Immunodeficiency 25 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:619707 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Increased circulating IgG level |
OMIM:618982 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:613502 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... |
OMIM:617241 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,... |
OMIM:613493 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec... |
OMIM:618534 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir... |
OMIM:618944 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia |
ORPHA:318 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration |
OMIM:619398 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level... |
ORPHA:98813 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Immunodeficiency 18 |
|
Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ... |
OMIM:615615 |
| Immunodeficiency 62 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,... |
OMIM:618459 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c... |
OMIM:612692 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Decreased c... |
OMIM:300400 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:601859 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... |
OMIM:308230 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:620282 |
| Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
| Activated Pi3K-Delta Syndrome |
|
Increased circulating IgM level, Decreased circulating antibody level |
ORPHA:397596 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu... |
OMIM:308240 |
| Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:619281 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... |
OMIM:240500 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Recurrent respirat... |
OMIM:614470 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619774 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level |
OMIM:618048 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level |
OMIM:616005 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve... |
OMIM:603909 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level... |
OMIM:612783 |
| Immunodeficiency 112 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620449 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre... |
ORPHA:169154 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
| Immunodeficiency 43 |
|
Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp... |
OMIM:241600 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Increased circulating IgM level |
OMIM:242860 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Angiostrongyliasis |
|
Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ... |
ORPHA:74 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:607594 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:618394 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level |
OMIM:617099 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:276 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Lipoatrophy |
ORPHA:79087 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia |
OMIM:619705 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ... |
OMIM:301081 |
| Zika Virus Disease |
|
Increased circulating IgM level |
ORPHA:448237 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:617388 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
| Immunodeficiency 115 With Autoinflammation |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:620632 |
| Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619510 |
| Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level |
OMIM:618752 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:858 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:620532 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes |
OMIM:269920 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive |
OMIM:614096 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function |
ORPHA:277 |
| Simple Cryoglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... |
ORPHA:91139 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir... |
OMIM:301082 |
| Immunodeficiency 23 |
|
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level |
OMIM:615816 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy |
ORPHA:85447 |
| Immunodeficiency 52 |
|
Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating antibody l... |
OMIM:617514 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia |
OMIM:613576 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619752 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:169160 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Distal arthrogryposis, Flexion contracture of finger, Camptodactyly, F... |
OMIM:617194 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:616100 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes... |
OMIM:256550 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM |
OMIM:243700 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia |
ORPHA:171442 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:618523 |
| Immunodeficiency 67 |
|
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... |
OMIM:607676 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:615934 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... |
ORPHA:860 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:615758 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449432 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:620603 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Immunodeficiency 92 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619652 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| C3 Glomerulopathy |
|
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... |
ORPHA:329918 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Immunodeficiency 9 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612782 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia |
OMIM:618838 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:331206 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level |
ORPHA:217390 |
| Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Small for ges... |
OMIM:614702 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ... |
OMIM:615559 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Bone marrow hypocellularity, Increased circulating IgM level |
OMIM:617303 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
| Autoimmune Lymphoproliferative Syndrome |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin... |
ORPHA:3261 |
| Pgm3-Cdg |
|
Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re... |
ORPHA:443811 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardi... |
OMIM:212140 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ... |
ORPHA:36238 |
| Mulibrey Nanism |
|
Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:436159 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Anal Fistula |
|
Cellulitis, Leukocytosis |
ORPHA:228113 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Anemia |
ORPHA:514 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypereosinophilia, Leukocytosis, Pleural effusion, Elevated circulating C-reactive p... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Umbilical hernia, Large for gestational age, Cardiomega... |
OMIM:239850 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
| Japanese Encephalitis |
|
Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Hepatomegaly |
ORPHA:99931 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level |
OMIM:256500 |
| Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c... |
ORPHA:297 |
| Leishmaniasis |
|
Increased circulating antibody level |
ORPHA:507 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Increased circulating IgM level |
ORPHA:505248 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:90362 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Ventricular septal defe... |
OMIM:620609 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Increased circulating IgM level |
ORPHA:79078 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic... |
ORPHA:911 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Primary Biliary Cholangitis |
|
Increased circulating IgA level, Increased circulating IgM level |
ORPHA:186 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Pulmonary hypoplasia |
OMIM:601809 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619802 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Cachexia |
ORPHA:42 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati... |
OMIM:618986 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ... |
ORPHA:35078 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
| Tularemia |
|
Increased circulating antibody level |
ORPHA:3392 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:613011 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Pneumocystosis |
|
Increased circulating antibody level |
ORPHA:723 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Lipoatrophy, Failure to thrive |
ORPHA:349 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level |
ORPHA:1493 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, An... |
OMIM:618278 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgG level, Increas... |
ORPHA:2298 |
| Prolidase Deficiency |
|
Increased circulating antibody level |
OMIM:170100 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Wolcott-Rallison Syndrome |
|
Decreased body weight, Iron deficiency anemia, Double outlet right ventricle, Atrial septal defec... |
ORPHA:1667 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or... |
OMIM:300755 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449395 |
| Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
| Igg4-Related Pachymeningitis |
|
Increased circulating IgG4 level, Reduced circulating complement concentration |
ORPHA:449427 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Small ... |
OMIM:616897 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity |
OMIM:301078 |
| Liver Failure, Infantile, Transient |
|
Decreased circulating IgG level |
OMIM:613070 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614700 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... |
OMIM:102700 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac... |
OMIM:606367 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Decreased mean platelet volume, Recurrent pneumonia, Lymphocytosis, Thrombocytopenia,... |
OMIM:617718 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
| Waldenström Macroglobulinemia |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:33226 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Weight loss, Lymphocytosis |
ORPHA:139402 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Pulmonary hypoplasia |
ORPHA:2140 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Elevated circulating C-reactive... |
ORPHA:457077 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... |
ORPHA:3427 |
| Congenital Analbuminemia |
|
Increased circulating antibody level |
ORPHA:86816 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Leukocytosis, Constrictive pericarditis, Weight loss, Lung absce... |
ORPHA:67 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... |
ORPHA:363705 |
| Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total IgG, Decre... |
ORPHA:221139 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Joint contracture of the ... |
OMIM:602782 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Small for gestational age |
OMIM:613320 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Omphalocele |
OMIM:617022 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... |
OMIM:300972 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Anemia, Thrombocytopenia, ... |
OMIM:608013 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level |
ORPHA:319218 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
| Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:1304 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic decreased circulating IgG1 |
OMIM:300953 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Encephalitis Lethargica |
|
Increased circulating antibody level |
ORPHA:83600 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level |
OMIM:304790 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent... |
OMIM:256040 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Primary Sclerosing Cholangitis |
|
Polyclonal elevation of IgM |
ORPHA:171 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Weight loss, Hepatomegaly |
ORPHA:465508 |
| Fucosidosis |
|
Failure to thrive, Splenomegaly, Hernia, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Flex... |
OMIM:230000 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Alg12-Cdg |
|
Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t... |
ORPHA:79324 |
| Aspergillosis |
|
Increased circulating IgE level |
ORPHA:1163 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level |
OMIM:617591 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:99827 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia |
ORPHA:439232 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia |
ORPHA:1517 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Immunodeficiency 17 |
|
Chronic decreased circulating IgG2 |
OMIM:615607 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Increased circulating IgM level |
ORPHA:99829 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... |
ORPHA:90363 |
| Gaucher Disease |
|
Polyclonal elevation of IgM, Increased circulating antibody level |
ORPHA:355 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Increased circulating IgE level |
ORPHA:2314 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepat... |
ORPHA:308552 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue |
ORPHA:2463 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul... |
ORPHA:183675 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell... |
OMIM:620376 |
| Riddle Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:420741 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Mgat2-Cdg |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:79329 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level |
ORPHA:449563 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgA level, Defective B cell differentiatio... |
OMIM:208900 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Mitral valve prolaps... |
OMIM:245600 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Developmental And Epileptic Encephalopathy 95 |
|
Umbilical hernia, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Hepatomegaly, Arthr... |
OMIM:618143 |
| Cystic Echinococcosis |
|
Increased circulating antibody level |
ORPHA:400 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Abnormal ... |
OMIM:301000 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Elbow flexion contracture, Knee flexion contracture, Cardiomegaly, Hepato... |
OMIM:608836 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... |
ORPHA:508533 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Matthew-Wood Syndrome |
|
Abnormal lung morphology, Abnormal spleen morphology, Congenital diaphragmatic hernia, Pulmonary ... |
ORPHA:2470 |
| Hyper-Igd Syndrome |
|
Increased circulating IgD level, Increased circulating IgA level |
OMIM:260920 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level |
OMIM:601675 |
| Lead Poisoning |
|
Increased circulating IgE level, Abnormality of humoral immunity |
ORPHA:330015 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:212065 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:125 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:614921 |
| Selective Igm Deficiency |
|
Paraproteinemia, Decreased specific antibody response to vaccination, Decreased circulating total... |
ORPHA:331235 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased circulating antibody l... |
ORPHA:3132 |
| Congenital Tracheomalacia |
|
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Mucolipidosis Ii Alpha/Beta |
|
Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Inguinal hernia, Splenomegaly, ... |
OMIM:252500 |
| Poems Syndrome |
|
Increased circulating antibody level |
ORPHA:2905 |
| Mucopolysaccharidosis Type 3 |
|
Umbilical hernia, Inguinal hernia, Abnormal mitral valve morphology, Abnormal aortic valve morpho... |
ORPHA:581 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Al Amyloidosis |
|
Increased circulating antibody level |
ORPHA:85443 |
| Cysticercosis |
|
