Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections |
OMIM:300645 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
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 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Immunodeficiency 31A |
|
Recurrent mycobacterium avium complex infections, Recurrent viral infections |
OMIM:614892 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Dent Disease 2 |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Aminoaciduria, Hypophosphatemia |
OMIM:618913 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Hypophosphatemia |
OMIM:308990 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Aminoaciduria, Hypophosphatemia |
OMIM:134600 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia |
ORPHA:444463 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Cystinosis |
|
Aminoaciduria, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Recurrent meningococcal disease |
OMIM:615561 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Hypophosphatemia |
OMIM:613388 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increa... |
OMIM:227810 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Generalized aminoaciduria, Hypophosphatemia |
ORPHA:2088 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased... |
ORPHA:3337 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Dent Disease 1 |
|
Aminoaciduria, Hypophosphatemia |
OMIM:300009 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia |
OMIM:608184 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Cystinosis, Nephropathic |
|
Hyponatremia, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypophosphatemia, Aminoacid... |
OMIM:219800 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... |
OMIM:602450 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Aminoaciduria, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Dent Disease |
|
Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level |
OMIM:617341 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration |
ORPHA:247691 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... |
ORPHA:449395 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration... |
ORPHA:99829 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |