| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
| Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... |
OMIM:212050 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... |
OMIM:615897 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Increased circulating IgE level, Atopic dermatitis, Ulcerative colitis, ... |
OMIM:617638 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent... |
ORPHA:169160 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... |
OMIM:610163 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
| Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... |
OMIM:137100 |
| Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
| Immunodeficiency 62 |
|
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... |
OMIM:618459 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level |
OMIM:616911 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Villous atrophy, Lymphopenia, Eczema, Oligoarthritis, Persisten... |
OMIM:619510 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Villous atrophy, Recurrent skin infections, Eczema, Allergic rh... |
OMIM:256500 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... |
OMIM:616941 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... |
ORPHA:277 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections |
OMIM:618985 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Idiopathic Pulmonary Fibrosis |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl... |
ORPHA:2032 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increas... |
ORPHA:98813 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... |
OMIM:619281 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
| Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
| Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
| Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
| Immunodeficiency 23 |
|
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... |
OMIM:615816 |
| Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Ost... |
ORPHA:449280 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Elevated bronc... |
OMIM:178500 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Abscess, Perianal abscess, Lymphadeni... |
OMIM:618935 |
| Complement Component 8 Deficiency, Type I |
|
Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
| Immunodeficiency 11A |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... |
OMIM:615206 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... |
OMIM:301082 |
| Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Chronic lymphocytic meningitis, Recurrent urinary tract infecti... |
OMIM:209920 |
| Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... |
OMIM:614420 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... |
ORPHA:79124 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
| Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... |
OMIM:209950 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... |
OMIM:614493 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... |
OMIM:614102 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
| Immunodeficiency 88 |
|
BCGosis, Eosinophilia |
OMIM:619630 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... |
ORPHA:486 |
| Immunodeficiency 33 |
|
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... |
OMIM:300636 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Roifman Syndrome |
|
Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... |
ORPHA:353298 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Hypersensitivity pneumonitis, Incre... |
ORPHA:1163 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Pulmonary fibrosis |
OMIM:611943 |
| Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... |
OMIM:241600 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent upper respirat... |
OMIM:619752 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... |
ORPHA:572 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... |
OMIM:615139 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... |
OMIM:617514 |
| Lymphoproliferative Syndrome 3 |
|
Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu... |
OMIM:618261 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Antinuclear antibody positivity, Anti-t... |
OMIM:618048 |
| Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... |
OMIM:301000 |
| Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis |
OMIM:618847 |
| Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obli... |
OMIM:615518 |
| Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Schnitzler Syndrome |
|
Splenomegaly, Increased circulating IgM level, Leukocytosis, Anemia |
ORPHA:37748 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
| Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... |
OMIM:601457 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Increa... |
ORPHA:449400 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Selective Igm Deficiency |
|
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... |
OMIM:606367 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
| Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... |
ORPHA:276 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... |
OMIM:300635 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... |
ORPHA:169079 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... |
OMIM:618999 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... |
OMIM:607624 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circu... |
ORPHA:2314 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Pulmonary fibrosis, Abnormally low T cell rec... |
OMIM:619767 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... |
ORPHA:35078 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... |
OMIM:615952 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric ste... |
OMIM:615577 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Anemia, Gastroesophageal reflux, Pulmonary fibrosis, Reticular pat... |
OMIM:614742 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse alveola... |
ORPHA:178320 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Increased circulating IgA lev... |
OMIM:615934 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, D... |
ORPHA:33355 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
| Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial mor... |
OMIM:612387 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
| Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopen... |
OMIM:617425 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
| Neuronal Intestinal Pseudoobstruction |
|
Malabsorption, Recurrent infections, Decreased circulating antibody level |
ORPHA:99811 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Reticulonodular pattern on pulm... |
ORPHA:133 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, Leukocytosi... |
OMIM:619652 |
| C1Q Deficiency 1 |
|
Autoimmunity, Decreased circulating complement factor I concentration, Systemic lupus erythematosus |
OMIM:613652 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... |
OMIM:618165 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent skin... |
OMIM:620210 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... |
OMIM:242860 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... |
ORPHA:183675 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Leukemia, Myeloid leukemia |
OMIM:614743 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnorma... |
OMIM:607616 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia |
ORPHA:83313 |
| Chilblain Lupus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... |
ORPHA:90280 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... |
ORPHA:74 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Abnormal immunoglobulin level |
ORPHA:90159 |
| Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... |
ORPHA:2902 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Gastritis, Skin rash, Myoc... |
ORPHA:809 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... |
OMIM:614700 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
| Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Severe infection, Rec... |
ORPHA:2686 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent lower respiratory tract infections, Recurrent skin infections, Decreased circulating Ig... |
OMIM:617744 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
| Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus |
OMIM:613791 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... |
ORPHA:1839 |
| Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... |
OMIM:615122 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Leukoc... |
ORPHA:2070 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Decreas... |
OMIM:615559 |
| Asthma, Susceptibility To |
|
Asthma, Airway hyperresponsiveness, Bronchoconstriction |
OMIM:600807 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Meningitis, Anemia |
OMIM:607115 |
| Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, BCGosis, Recurre... |
OMIM:619644 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... |
OMIM:610913 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Roifman Syndrome |
|
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media |
OMIM:616651 |
| Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Erythroderma, Abnormal ... |
ORPHA:39041 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev... |
ORPHA:634 |
| Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Xerostomia, Abnormal pulmonar... |
ORPHA:81 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... |
OMIM:608233 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia |
ORPHA:254361 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sinusitis, Impaired T cell funct... |
OMIM:613179 |
| Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:615758 |
| Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia |
ORPHA:220402 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Blepharitis |
OMIM:614328 |
| Complement Component C1R/C1S Deficiency |
|
Complement deficiency, Autoimmunity |
OMIM:216950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Cystic Echinococcosis |
|
Invasive parasitic infection, Abscess, Abnormality of the testis size, Eosinophilia, Unusual infe... |
ORPHA:400 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Erysipelas, Pulmonary fibrosis |
OMIM:615704 |
| Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenom... |
ORPHA:99931 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,... |
OMIM:616871 |
| Eosinophilopenia |
|
Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Men... |
ORPHA:37042 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Prostatitis, Increased circulating I... |
ORPHA:449432 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Pulmonary fibrosis, Abnormal pleura morphology, Hepatosplenomegaly |
ORPHA:210136 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia |
ORPHA:448237 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
| Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
| Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
| Riddle Syndrome |
|
Pneumonia, Bronchitis, Recurrent viral infections, Recurrent pneumonia, Abnormal pulmonary inters... |
ORPHA:420741 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Pulmonary fibrosis, Neutropenia,... |
OMIM:613989 |
| Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Pulmonary fibrosis, Stoma... |
OMIM:612852 |
| Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Bronchiectasis, Decreased c... |
OMIM:618131 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... |
OMIM:301078 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Decreased circula... |
OMIM:243150 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... |
ORPHA:449427 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... |
OMIM:619611 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Respiratory tract infection, Severe viral infection,... |
ORPHA:79128 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Arthritis, Hemosiderin... |
OMIM:616414 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
| Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
| Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Splenomegaly,... |
ORPHA:2137 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephrit... |
ORPHA:139402 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... |
ORPHA:91139 |
| Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Gastroesophageal reflux, Dysphagia, Decreased circulating IgA l... |
DECIPHER:45 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
| Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Eczema, ... |
OMIM:615607 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Reduced propo... |
ORPHA:90362 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
High palate, Decreased testicular size, Pulmonary fibrosis |
ORPHA:457240 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Anemia, Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Thromboc... |
ORPHA:90060 |
| Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Abnormal ... |
ORPHA:228123 |
| Chédiak-Higashi Syndrome |
|
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... |
ORPHA:167 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... |
ORPHA:449395 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity |
ORPHA:98827 |
| Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
| Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust... |
ORPHA:29207 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... |
ORPHA:562639 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, Splenomegaly, ... |
ORPHA:158061 |
| Immunodeficiency 40 |
|
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T... |
OMIM:616433 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Xerostomia, Arthritis, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia |
ORPHA:220393 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Hypoalbuminemia, Bon... |
OMIM:617303 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal pulmonary interstitial morphology, Arthritis,... |
ORPHA:732 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Decreased circulating IgA level |
OMIM:215250 |
| Postinfectious Vasculitis |
|
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... |
ORPHA:48435 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Intestinal obstruction, Myositis, Sinusitis, Eosinophilia, Skin ... |
ORPHA:183 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia |
OMIM:253600 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscul... |
OMIM:127550 |
| Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
| Thrombocytopenia 1 |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... |
OMIM:313900 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227990 |
| Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
| Lassa Fever |
|
Increased circulating IgM level |
ORPHA:99824 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| C3 Glomerulopathy |
|
Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa... |
ORPHA:329918 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Pulmonary fibrosis, Oral leukoplakia, Thromb... |
OMIM:224230 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Recurrent ... |
ORPHA:900 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Iridocyclitis, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitial morpho... |
OMIM:181000 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
| Bloom Syndrome |
|
Recurrent herpes, Severe varicella zoster infection, Uveitis, Gastroesophageal reflux, Otitis med... |
ORPHA:125 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227982 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Colitis, Neutrophilia, Leukocytosis, Chronic hepatitis, Hepatosplenomegaly, Pulmonar... |
ORPHA:3260 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Pulmonary fibrosis, Oral leukoplakia, ... |
OMIM:613990 |
| Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Gastroesophageal reflux, Oral leukoplakia,... |
OMIM:620040 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... |
ORPHA:85410 |
| Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology,... |
ORPHA:99745 |
| Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue,... |
OMIM:158310 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... |
ORPHA:221139 |
| Braddock Syndrome |
|
Pulmonary fibrosis |
ORPHA:52047 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
| Alopecia Antibody Deficiency |
|
Recurrent respiratory infections, Decreased circulating antibody level |
ORPHA:1006 |
| Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
| Inclusion Body Myositis |
|
Autoimmunity |
ORPHA:611 |
| Hermansky-Pudlak Syndrome 4 |
|
Absent platelet dense granules, Pulmonary fibrosis |
OMIM:614073 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Decreased circulating antibody level, Recurrent infections... |
OMIM:226300 |
| Lymphatic Filariasis |
|
Glomerulonephritis, Circulating immune complexes, Orchitis, Opportunistic bacterial infection, Ly... |
ORPHA:2035 |
| Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... |
ORPHA:297 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Keratitis, Incr... |
ORPHA:449563 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Celiac disease, Sepsis, Hepatitis, Hashimoto ... |
ORPHA:199299 |
| Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho... |
ORPHA:244 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Myocarditis, ... |
ORPHA:781 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... |
ORPHA:51636 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... |
ORPHA:158048 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuclear antibody ... |
OMIM:619375 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... |
ORPHA:70578 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, D... |
ORPHA:2268 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Abnormal spleen morphology, Increased circulating antib... |
ORPHA:284 |
| Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Pulmonary fibrosis |
OMIM:203300 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
| Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Increased circulating IgM level, ... |
ORPHA:186 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chronic diarrhea, ... |
OMIM:619858 |
| Thymoma |
|
Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology,... |
ORPHA:99867 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Tularemia |
|
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... |
ORPHA:3392 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level |
ORPHA:48104 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Recurrent abs... |
OMIM:619381 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Rift Valley Fever |
|
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia |
ORPHA:319251 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Hypoalbuminemi... |
ORPHA:505248 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Niemann-Pick Disease, Type C2 |
|
Bone-marrow foam cells, Splenomegaly, Pulmonary fibrosis, Sea-blue histiocytosis, Dysphagia |
OMIM:607625 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Decreased circulating complement C3 concentration, Autoimmunity |
ORPHA:79087 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Sepsis, Hepatitis, Mele... |
ORPHA:319218 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnormal pulmonary i... |
ORPHA:77259 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Type II pneu... |
OMIM:263000 |
| Overlap Myositis |
|
Severe infection, Abnormal pulmonary interstitial morphology, Arthritis, Leukopenia, Rheumatoid a... |
ORPHA:206572 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Recurrent infections, Anemia, Arthritis, Panniculit... |
OMIM:617591 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Recurrent bronchitis, Pneumonia, Autoimmune t... |
ORPHA:1572 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ... |
ORPHA:221 |
| 46,Xx Gonadal Dysgenesis |
|
Pulmonary fibrosis |
ORPHA:243 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Tubulointerstitial... |
ORPHA:289390 |
| Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
| Rasmussen Subacute Encephalitis |
|
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... |
ORPHA:1929 |
| Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstitial morphology, Dysphagia |
ORPHA:206569 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Intestinal bleeding, Pulmonary fibrosis, Gastrointestinal telangiectasia, Oral ... |
OMIM:612199 |
| Loeffler Endocarditis |
|
Pericarditis, Eosinophilia |
ORPHA:75566 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Recurrent pneumonia, Pulmonary fibrosis, Abnormal pulmonary int... |
ORPHA:209905 |
| Japanese Encephalitis |
|
Hyponatremia, Increased circulating IgM level, Neutrophilia, Increased circulating antibody level |
ORPHA:79139 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Arthritis, Pulmonary fibrosis, Dy... |
ORPHA:93672 |
| Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Anti... |
ORPHA:64744 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Autoimmunity, Decreased circulating complement C3 concentration, Anti-dsDNA antibody positivity, ... |
ORPHA:567544 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Infe... |
ORPHA:1304 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Pleural... |
ORPHA:35687 |
| Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Pulmonary fi... |
OMIM:615486 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Esophageal varix, Decreased specific anti-p... |
OMIM:614576 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Visceral Myopathy 2 |
|
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Neutropenia, Pulmonary fibrosis, Malabsorption |
ORPHA:79430 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnormal pulmonary i... |
ORPHA:355 |
| Chitayat Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617180 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Bronchiectasis, Subple... |
ORPHA:60025 |
| Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopen... |
ORPHA:797 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Thrombocytopenia, Leukocytosis, Cleft palate, Hepatosplenome... |
OMIM:274000 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Leukocytosis, Bronchiectasis, Abnormal pulmonary interstitial morphology, Gastroesop... |
OMIM:620233 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Polycythemia, Recurrent staphylococca... |
ORPHA:2968 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Increased circulating IgE level, Imbalanced hemoglobin s... |
ORPHA:330015 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Howell-Jolly bodies, Xero... |
ORPHA:85443 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Microcytic anemia |
OMIM:619013 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia |
ORPHA:1303 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia |
ORPHA:30 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating creatine ki... |
ORPHA:99829 |
| Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Esophageal stric... |
OMIM:305000 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Abnorm... |
ORPHA:2072 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Pneumocystosis |
|
Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... |
OMIM:300972 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Bronchiectasis, Ac... |
OMIM:208900 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Leukemia, Cryoglobulinemia, Monoclon... |
ORPHA:33226 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... |
ORPHA:88 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Agammaglobulinemia, Lymph... |
ORPHA:935 |
| Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Neutr... |
OMIM:617050 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... |
ORPHA:79078 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration |
ORPHA:90003 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia |
OMIM:170100 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... |
ORPHA:217563 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Decreased circulating total IgM, Hypocalcemic seizures, Decreased circulating IgG l... |
OMIM:612301 |
| Junctional Epidermolysis Bullosa Inversa |
|
Nail dystrophy, Gastrointestinal inflammation |
ORPHA:79405 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
| Primary Sclerosing Cholangitis |
|
Cholangiocarcinoma, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Hepat... |
ORPHA:171 |
| Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Abnormal lymphocyte physiology, Minimal change glomerulonephritis, Thro... |
ORPHA:1830 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... |
ORPHA:66628 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k... |
OMIM:602668 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Autoimmunity, Thrombocytopenia, Agammaglobulinemia, Neutro... |
ORPHA:47 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis |
ORPHA:464 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Pyloric stenosis, Ileus, Recurrent pneumonia, Recurrent infections, Dysphagia, Decr... |
OMIM:613327 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Decreased circulating complement factor B concentration, Increased circulating IgA ... |
ORPHA:2298 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Gastrointestinal dysmotility, Abnormal pulmonary interstitial morphology, Pulmo... |
ORPHA:330001 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Hepatitis, Gastroeso... |
OMIM:613385 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Gastrointestinal inflammation |
ORPHA:79406 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morphology, Anemia, Th... |
OMIM:230800 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Recurrent upper... |
ORPHA:179494 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Recurrent pharyngitis, Meningitis, Myocarditis, Leukocytosis, Abnormal p... |
ORPHA:2331 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Nail dystrophy, Gastrointestinal inflammation |
ORPHA:79411 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased circ... |
OMIM:607143 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Splenomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:210900 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Pustule, Myocarditis, Thrombocytopenia, Spl... |
ORPHA:50918 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
| Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
| Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... |
ORPHA:77261 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Autoimmunity |
ORPHA:363558 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis |
OMIM:308300 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Autoimmunity |
ORPHA:163703 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Neonatal asphyxia, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... |
ORPHA:99827 |
| Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Autoimmunity, Abnormality of neutrophils, Thrombocytopenia... |
ORPHA:229717 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Celiac disease, Thyroiditis, Iron deficiency anemia, Recurrent aphthou... |
OMIM:212750 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis |
ORPHA:863 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Intestinal polyp, Lactose intolerance, Decreased circulating IgA level |
ORPHA:457485 |
| Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Orchitis, Meningitis, Peritonitis, Diarrhea, Episodic abdominal pai... |
OMIM:249100 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Acquired Ichthyosis |
|
Autoimmunity |
ORPHA:454 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
| Linear Iga Dermatosis |
|
Autoimmunity |
ORPHA:46488 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... |
OMIM:256040 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... |
OMIM:260920 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Allergic conjunctivitis,... |
OMIM:176690 |
| Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palat... |
OMIM:223370 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia |
OMIM:620326 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... |
ORPHA:470 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... |
OMIM:265120 |
| Encephalitis Lethargica |
|
Increased circulating antibody level, Autoimmunity |
ORPHA:83600 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Autoimmunity |
ORPHA:69665 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Systemic lup... |
ORPHA:90033 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus |
ORPHA:90036 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Recurr... |
OMIM:620005 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Nail dystrophy, Gastrointestinal inflammation |
ORPHA:79409 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Anti-Glomerular Basement Membrane Disease |
|
Autoimmunity, Anemia |
ORPHA:375 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody positivity, Neutropen... |
ORPHA:228426 |
| Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration |
ORPHA:167635 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Paraproteinemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation |
OMIM:617903 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard pala... |
OMIM:192430 |
| Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary interstitial morphology, Pneumonia |
ORPHA:97287 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
| Type 1 Diabetes Mellitus |
|
Autoimmunity |
OMIM:222100 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Pancytopenia, Intestinal malrotation, Esophageal varix, Abnor... |
OMIM:613658 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Urinary bladder inflammation, Esophageal stricture, Pneumothorax, Xerost... |
ORPHA:99921 |
| Livedoid Vasculopathy |
|
Pancytopenia, Autoimmunity, Antinuclear antibody positivity, Abnormality of complement system, Le... |
ORPHA:542643 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Knobloch Syndrome 2 |
|
Pyloric stenosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:618458 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Hyperventilation |
OMIM:253270 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... |
ORPHA:544482 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Nail dystrophy, Gastrointestinal inflammation |
ORPHA:79410 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia |
ORPHA:2905 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Steatorrhea, Thrombocytosis, Decreased circulating IgG level, Decr... |
OMIM:212065 |
| Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... |
ORPHA:173 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Autoimmunity |
ORPHA:56425 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
| Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Decreased circulating total IgM, High palate, Eczema |
OMIM:618162 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear... |
ORPHA:1855 |
| Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
| Dermatitis Herpetiformis |
|
Autoimmunity, Microcytic anemia |
ORPHA:1656 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Alopecia, Recurrent skin infections, Pneumonia, Esophageal st... |
ORPHA:79404 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Primary Fanconi Renotubular Syndrome |
|
Pulmonary fibrosis |
ORPHA:3337 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Joubert Syndrome 8 |
|
Hyperventilation |
OMIM:612291 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Juvenile rheumatoid arthritis, Autoimmunity |
ORPHA:85414 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Hyperventilation |
OMIM:618775 |
| Angioedema, Hereditary, 1 |
|
Decreased circulating C1-esterase inhibitor concentration, Autoimmunity, Reduced hemolytic comple... |
OMIM:106100 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Crazy paving pattern |
ORPHA:264675 |
| Peripartum Cardiomyopathy |
|
Autoimmunity, Anemia, Increased circulating interferon-gamma concentration |
ORPHA:563 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Hyperventilation |
ORPHA:98784 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Autoimmunity |
ORPHA:293964 |
| Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Autoimmunity |
ORPHA:704 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Anorexi... |
ORPHA:95455 |
| Cushing Disease |
|
Acne, Leukocytosis, Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia |
ORPHA:96253 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Hypertriglyceridemia, Hypercalcemia, Decreased circulating IgA l... |
ORPHA:369837 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythe... |
OMIM:607944 |
| Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Villous atrophy, Abnormality of cytokine secretion |
ORPHA:567983 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi... |
OMIM:615846 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperventilation |
OMIM:610042 |
| Bullous Pemphigoid |
|
Autoimmunity |
ORPHA:703 |
| Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Prostatitis, Peri... |
ORPHA:1546 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperammonemia, Hyperventilation |
ORPHA:79241 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Farber Disease |
|
Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent upper respiratory tra... |
ORPHA:333 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Increased circulating interleukin 6 concentration, Eosinophilia |
ORPHA:75565 |
| Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Cryptorchidism, Increased circulating IgE level, Splenomegaly, Cleft palate,... |
ORPHA:373 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Autoimmunity, Thrombocytopenia |
ORPHA:169090 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Dyspnea, Hyperproteinemia, Increased circulating renin level, Hyperuricemia... |
ORPHA:90041 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Cysticercosis |
|
Increased circulating antibody level |
ORPHA:1560 |
| Stiff-Person Syndrome |
|
Autoimmunity, Anemia |
OMIM:184850 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, High palate, Decreased circulating IgA level |
ORPHA:1600 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... |
ORPHA:83617 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, High, narrow palate, Thrombocytopenia, Spl... |
OMIM:188400 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Celiac disease, Increased circulat... |
ORPHA:99413 |
| Turner Syndrome |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Celiac disease, Increased circulat... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Celiac disease, Increased circulat... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Female infertility, Celiac disease, Increased circulat... |
ORPHA:99226 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Acne, Neoplasm of the stomach, Leukocytosis, Recurrent c... |
ORPHA:99889 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Low plasma citrulline, Episodic respiratory distress, Hyperalaninemia, Hyperventi... |
ORPHA:255210 |
| Say-Barber-Miller Syndrome |
|
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... |
ORPHA:3132 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morphol... |
ORPHA:77293 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Asthma |
OMIM:619471 |
| Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Wheezing, Tachypnea, Pn... |
ORPHA:90068 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Steatorrhea,... |
ORPHA:275761 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Emphysema, Hypertriglyceridemia |
ORPHA:363618 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate |
ORPHA:2237 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Xanthelasma, Pulmonary venous hypertension, Hype... |
ORPHA:79259 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Autoimmunity |
ORPHA:33577 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation |
ORPHA:163681 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Hyperventilation |
OMIM:617799 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Hyperventilation |
ORPHA:522077 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
| Pitt-Hopkins Syndrome |
|
Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation |
OMIM:300749 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:614748 |
| Acquired Generalized Lipodystrophy |
|
Abnormality of complement system, Autoimmunity |
ORPHA:79086 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Respiratory insufficiency, Hypokalemia, Hyperaldosteronism, Hypophos... |
ORPHA:534 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Malnutrition, Gastrointestinal inflammation, Gastr... |
ORPHA:79408 |
| Myasthenia Gravis |
|
Autoimmunity |
OMIM:254200 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Autoimmunity, Hypoplasia of the thymus, Rectal abscess, Hashimoto th... |
ORPHA:436252 |
| Aicardi-Goutières Syndrome |
|
Autoimmunity, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Acute Liver Failure |
|
Abnormal respiratory system physiology, Hyperammonemia, Hypocapnia, Abnormal pattern of respirati... |
ORPHA:90062 |
| Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn... |
ORPHA:273 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Pulmonary arterial hyperten... |
OMIM:606721 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Myeloproliferative disorder, Lupus anticoagulant, Antiphospholipid antibody positivity, Autoimmunity |
ORPHA:70591 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
| Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoal... |
OMIM:233450 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Dyspnea, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypercholesterolemia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration... |
OMIM:619534 |
| Pallister-Killian Syndrome |
|
Apneic episodes in infancy, Hyperventilation |
OMIM:601803 |
| Pmm2-Cdg |
|
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis |
ORPHA:79318 |
