Immunodeficiency 24 |
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Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... |
OMIM:615897 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... |
OMIM:312863 |
Immunodeficiency, Common Variable, 5 |
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Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
Wiskott-Aldrich Syndrome 2 |
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Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... |
OMIM:614493 |
Immunodeficiency 18 |
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Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... |
OMIM:615615 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 50 |
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Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Immunodeficiency 48 |
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Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Splenomegal... |
OMIM:269840 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
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Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology |
OMIM:616911 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Immunodeficiency 8 With Lymphoproliferation |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... |
OMIM:615401 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism |
OMIM:183350 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... |
OMIM:617241 |
Reticular Dysgenesis |
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Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... |
OMIM:267500 |
Immunodeficiency, Common Variable, 3 |
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Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... |
OMIM:613493 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... |
OMIM:611926 |
Immunodeficiency 52 |
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Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... |
OMIM:617514 |
Agammaglobulinemia 8A, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia |
OMIM:616941 |
Immunodeficiency 15A |
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Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Immunodeficiency 11A |
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Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... |
OMIM:615206 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia |
OMIM:247800 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... |
OMIM:619924 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
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Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Immunodeficiency 62 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, B lymphocytop... |
OMIM:618459 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... |
OMIM:616452 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... |
OMIM:618987 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Increased circul... |
OMIM:212050 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... |
ORPHA:169154 |
Immunodeficiency 112 |
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Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... |
OMIM:620449 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... |
OMIM:619846 |
Histiocytosis, Familial Lipochrome |
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Histiocytosis, Increased circulating antibody level |
OMIM:235900 |
Immunodeficiency 95 |
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Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia |
OMIM:619773 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... |
OMIM:620430 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy |
OMIM:252250 |
Agammaglobulinemia 10, Autosomal Dominant |
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Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... |
OMIM:619707 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
Immunodeficiency 44 |
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Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... |
OMIM:616636 |
Caspase 8 Deficiency |
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Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... |
OMIM:607271 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Lymphoma, Hodgkin, Classic |
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Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
Cernunnos-Xlf Deficiency |
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Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... |
ORPHA:169079 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
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Lymphadenopathy |
ORPHA:319600 |
Agammaglobulinemia 3, Autosomal Recessive |
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Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... |
OMIM:613501 |
Transcobalamin Deficiency |
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Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... |
ORPHA:859 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
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Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... |
OMIM:618944 |
Agammaglobulinemia 2, Autosomal Recessive |
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Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... |
OMIM:613500 |
Agammaglobulinemia 7, Autosomal Recessive |
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Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... |
OMIM:615214 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... |
OMIM:619802 |
Pa Polymorphism Of Alpha-2-Globulin |
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Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
ORPHA:70593 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... |
OMIM:618982 |
Immunodeficiency, Common Variable, 4 |
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Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 15B |
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Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel... |
OMIM:615592 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:620282 |
Immunodeficiency 64 With Lymphoproliferation |
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Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... |
OMIM:618534 |
Neutropenia, Chronic Familial |
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Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency, Common Variable, 13 |
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B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia |
OMIM:616873 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
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Abnormal lymph node morphology |
OMIM:136580 |
Immunodeficiency 70 |
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Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
OMIM:618969 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... |
OMIM:619824 |
Immunodeficiency 102 |
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Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r... |
OMIM:301082 |
Immunodeficiency, Common Variable, 14 |
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Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... |
OMIM:617765 |
Agammaglobulinemia 6, Autosomal Recessive |
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Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... |
OMIM:612692 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... |
OMIM:300853 |
Immunodeficiency, Common Variable, 11 |
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Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... |
OMIM:615767 |
Lymphoproliferative Syndrome 3 |
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Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Part... |
OMIM:618261 |
Immunodeficiency, Common Variable, 1 |
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Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... |
OMIM:607594 |
Immunodeficiency, Common Variable, 6 |
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Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
Mu-Heavy Chain Disease |
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Splenomegaly, Anemia, Increased circulating antibody level, Abnormal B cell count |
ORPHA:100024 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... |
OMIM:153600 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... |
ORPHA:277 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne... |
OMIM:619281 |
Immunodeficiency 67 |
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Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... |
OMIM:607676 |
Immunodeficiency 81 |
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Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... |
OMIM:619374 |
Immunodeficiency 57 With Autoinflammation |
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Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... |
OMIM:618108 |
Immunodeficiency 116 |
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Absence of CD8-positive T cells |
OMIM:608957 |
Immunodeficiency 17 |
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Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... |
OMIM:615607 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Lymphocytosis, Decreased circulating total IgM, Splenomegaly |
OMIM:606445 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Decreased c... |
OMIM:308240 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgE, T lymphocytopenia, Decreased proportion of memory B cells, Decreased c... |
OMIM:619510 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Hypoplasia... |
OMIM:300400 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Immunoglobulin A Deficiency 2 |
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Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
Immunodeficiency 86 |
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Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst |
OMIM:619549 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... |
ORPHA:331206 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia |
OMIM:601457 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Hyperchlorhidrosis, Isolated |
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Hyperkalemia, Hyponatremia |
OMIM:143860 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Lymphangiectasia, Intestinal |
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Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Candidiasis, Familial, 1 |
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Cutaneous anergy |
OMIM:114580 |
Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... |
OMIM:601859 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... |
OMIM:240500 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... |
OMIM:613502 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... |
OMIM:619705 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia |
OMIM:609153 |
Immunodeficiency 37 |
|
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... |
OMIM:616098 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... |
OMIM:202700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... |
OMIM:600802 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... |
OMIM:241600 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... |
OMIM:610163 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... |
OMIM:615285 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:1116 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... |
OMIM:619767 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... |
OMIM:618986 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... |
OMIM:605258 |
Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis... |
OMIM:614470 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... |
OMIM:618394 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia |
ORPHA:2688 |
Immunodeficiency 115 With Autoinflammation |
|
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... |
OMIM:620632 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... |
OMIM:619774 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... |
OMIM:614069 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... |
OMIM:603909 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Immunodeficiency 92 |
|
Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce... |
OMIM:619652 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... |
ORPHA:90044 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia |
ORPHA:217390 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... |
ORPHA:911 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... |
OMIM:608106 |
Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... |
OMIM:301081 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA level, Thrombocytop... |
OMIM:618048 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... |
ORPHA:169160 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... |
ORPHA:35078 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Absent isohemagglutinin level, Increased circulating antibody level,... |
OMIM:615559 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, De... |
OMIM:617780 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased circulating tot... |
OMIM:620210 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... |
OMIM:301000 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ... |
ORPHA:98813 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity, Lymphopenia, T lymphocytopenia, Hepatosplenomegaly, Aplasia of ... |
OMIM:242700 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of CD3-posit... |
ORPHA:276 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... |
ORPHA:572 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,... |
OMIM:619752 |
Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
Activated Pi3K-Delta Syndrome |
|
B lymphocytopenia, Increased circulating IgM level, Decreased circulating antibody level, Splenom... |
ORPHA:397596 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibo... |
OMIM:613011 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology |
OMIM:616910 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, De... |
OMIM:301078 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Decreased circulating antibody level, Decreased circulating IgG leve... |
OMIM:616100 |
Immunodeficiency 114, Folate-Responsive |
|
Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG level, Thrombocy... |
OMIM:620603 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
Selective Igm Deficiency |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr... |
ORPHA:331235 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination |
OMIM:608184 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulating IgE lev... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... |
OMIM:102700 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Panhypogammaglobulinemia, Rectal abscess, B lymphocytopenia, Decreased circulating antibody level... |
OMIM:601495 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
Immunodeficiency 9 |
|
Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly... |
OMIM:612782 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Decreased circulating antibody level, Leukocytosis |
OMIM:618042 |
Hemochromatosis, Type 3 |
|
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... |
OMIM:604250 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Immunodeficiency 22 |
|
Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p... |
OMIM:615758 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise, Hemolytic anemia |
ORPHA:57 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... |
OMIM:606367 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decreased circulat... |
ORPHA:508533 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells |
OMIM:619126 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Elevated circulating creatinine concentration, Anemia |
OMIM:620366 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... |
ORPHA:79124 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... |
OMIM:618849 |
Icf Syndrome |
|
Abnormality of neutrophils, Decreased circulating antibody level, Anemia, Lymphopenia |
ORPHA:2268 |
Aregenerative Anemia |
|
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... |
ORPHA:101096 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia |
OMIM:615190 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... |
OMIM:150550 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Ataxia-Telangiectasia |
|
Decreased circulating antibody level, Lymphopenia |
ORPHA:100 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic... |
OMIM:208900 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia |
OMIM:207731 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Decreased proportion of CD3-positive T cells, Decreased circulating antibody level, Reduc... |
ORPHA:90362 |
Immunodeficiency 68 |
|
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
Pgm3-Cdg |
|
Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... |
ORPHA:443811 |
Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... |
OMIM:613179 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... |
ORPHA:3261 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:301080 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... |
OMIM:614700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Decreased circulating IgA level, Reduced natural killer cell cou... |
OMIM:242860 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Mirage Syndrome |
|
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:617053 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia |
OMIM:620443 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell proliferation, T lympho... |
OMIM:616433 |
Agammaglobulinemia, X-Linked |
|
Anemia, Decreased circulating IgE, B lymphocytopenia, T lymphocytopenia, Decreased circulating Ig... |
OMIM:300755 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... |
OMIM:616084 |
Ebola Hemorrhagic Fever |
|
Thrombocytopenia, Leukopenia, Increased circulating antibody level, Lymphopenia |
ORPHA:319218 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Anemia, Lymphopenia |
ORPHA:935 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... |
ORPHA:158057 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... |
OMIM:618213 |
Corticosteroid-Binding Globulin Deficiency |
|
Reduced circulating cortisol-binding globulin concentration, Anemia, Hypokalemia |
OMIM:611489 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia |
OMIM:605309 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:243150 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... |
ORPHA:94093 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Splenome... |
OMIM:619375 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... |
ORPHA:158061 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Cutaneous abscess, Eosinophilia... |
OMIM:243700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... |
OMIM:615816 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Neutropenia, Lymphopenia |
OMIM:616395 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia |
OMIM:620133 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Increased circulating IgG level, Increased circulating IgA level, Leukopenia, Lymphopenia... |
OMIM:615934 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... |
ORPHA:221139 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... |
ORPHA:83471 |
Schimke Immuno-Osseous Dysplasia |
|
Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell... |
ORPHA:1830 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an... |
OMIM:611590 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... |
OMIM:614576 |
Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia |
OMIM:615966 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Lymphopenia |
OMIM:617425 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Hypokalemia |
OMIM:604278 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:179800 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased circulating antibody level... |
ORPHA:293978 |
Common Variable Immunodeficiency |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hem... |
ORPHA:1572 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... |
OMIM:618935 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:608885 |
Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Anemia |
ORPHA:97362 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... |
OMIM:242900 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Thrombocytop... |
OMIM:620005 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:90791 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... |
ORPHA:95409 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
Vici Syndrome |
|
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... |
OMIM:242840 |
Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... |
OMIM:301110 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Hypon... |
ORPHA:275761 |
Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:361 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... |
OMIM:301074 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia |
OMIM:614868 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ... |
ORPHA:247353 |
Addison Disease |
|
Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ... |
ORPHA:85138 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Whim Syndrome |
|
Decreased circulating antibody level, Neutropenia, Abnormal neutrophil morphology, Lymphopenia |
ORPHA:51636 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia |
OMIM:175500 |
Immunodeficiency 58 |
|
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... |
OMIM:618131 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... |
OMIM:127550 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Lymphopenia |
OMIM:620365 |
Cyclic Neutropenia |
|
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... |
ORPHA:2686 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Increased circulating interleukin 6 concentration, Anemia, Increased B cell count, Increased T ce... |
OMIM:620376 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
Cowden Syndrome 1 |
|
Decreased circulating antibody level, Lymphopenia |
OMIM:158350 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Lymphopenia, Decreased circulating IgG1 level, Decreased ci... |
ORPHA:90363 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia, Brain... |
ORPHA:544482 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... |
OMIM:251260 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
Bloom Syndrome |
|
Acute myeloid leukemia, Decreased proportion of CD4-positive T cells, Abnormal proportion of CD8-... |
ORPHA:125 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Anemia, Pancytopenia, Decreased circulating antibody level, Leukocytosis, Bone marrow hypocellula... |
OMIM:615688 |
East Syndrome |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
ORPHA:199343 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:466650 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased circulating total IgG, Anemia, B lymphocytopenia, Decreased proportion of naive T cells... |
OMIM:619381 |
Sweet Syndrome |
|
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... |
ORPHA:3243 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... |
ORPHA:79324 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Leukocytosis, Thrombocytopen... |
ORPHA:340 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... |
OMIM:613095 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Splenome... |
OMIM:614162 |
Acute Radiation Syndrome |
|
Thrombocytopenia, Granulocytopenia, Lymphopenia |
ORPHA:454831 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb... |
ORPHA:90038 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Syndromic Diarrhea |
|
Panhypogammaglobulinemia, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly,... |
ORPHA:84064 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Pancytopenia |
OMIM:181000 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... |
OMIM:227810 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, B lymphocytopen... |
ORPHA:391487 |
Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... |
ORPHA:70578 |
Cholera |
|
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Increased circulating antibody level, Normochromic anemia, Decreased circulati... |
ORPHA:289390 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... |
OMIM:612541 |
Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hyperchloriduria, Hypokalemia |
OMIM:607364 |
Immunodeficiency 87 And Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphopenia, Decreased proportion of CD4-positive ... |
OMIM:619573 |
Hennekam Syndrome |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia |
ORPHA:2136 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
OMIM:612780 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... |
ORPHA:542323 |
Osteootohepatoenteric Syndrome |
|
Anemia, Increased serum bile acid concentration, Hypokalemia |
OMIM:619377 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Hyperamylasem... |
ORPHA:99826 |
Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly |
OMIM:617913 |
Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
Pearson Syndrome |
|
Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, Hypoplastic sp... |
ORPHA:699 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypochloremia |
ORPHA:90794 |
Gitelman Syndrome |
|
Increased circulating renin level, Hypomagnesemia, Hypokalemia |
OMIM:263800 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia |
OMIM:219090 |
Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Hyponatremia, Decreased circulating renin level |
OMIM:201750 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration |
ORPHA:85410 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... |
OMIM:219800 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Hypokalemia |
ORPHA:769 |
Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:241200 |
22Q11.2 Deletion Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function |
ORPHA:567 |
Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hypercholesterolemia, Hypo... |
ORPHA:534 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Gitelman Syndrome |
|
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Hemolytic anemia |
ORPHA:18 |
Scorpion Envenomation |
|
Increased circulating creatine kinase MB isoform, Increased circulating NT-proBNP concentration, ... |
ORPHA:466677 |
Digeorge Syndrome |
|
Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly |
OMIM:188400 |
Nelson Syndrome |
|
Hypokalemia |
ORPHA:199244 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
Leprechaunism |
|
Increased circulating renin level, Hypokalemia |
ORPHA:508 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Hypokalemia |
ORPHA:47159 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |