Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level |
OMIM:235900 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:199296 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... |
ORPHA:98813 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:618534 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, Decreased circu... |
OMIM:620282 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Reduced natural killer cell activity, Increased circulating f... |
OMIM:603553 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
Alg12-Cdg |
|
Hyponatremia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... |
ORPHA:79324 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, A... |
OMIM:241600 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Agammaglobulinemia, Decreased circulating total IgM, Decrea... |
OMIM:300400 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Hypoalbuminemia, Increased circulating IgM level |
OMIM:209950 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Abnormal circulating IgM level, Elevated circulating C-reactive ... |
OMIM:618048 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
Legionnaires Disease |
|
Hyponatremia, Bone marrow hypocellularity |
ORPHA:549 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Increased circulating IgE level |
OMIM:615508 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
Japanese Encephalitis |
|
Hyponatremia, Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
ORPHA:361 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hyperkalemia, Decreased circulating antibody level |
ORPHA:293978 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia |
ORPHA:90790 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Increased propo... |
ORPHA:167 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... |
OMIM:619824 |
Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
Pituitary Apoplexy |
|
Hyponatremia |
ORPHA:95613 |
Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:617388 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Hyperkalemia, Hypocalcemia, Abno... |
ORPHA:544482 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:168558 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De... |
ORPHA:29073 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c... |
ORPHA:289548 |
Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619281 |
Sheehan Syndrome |
|
Hyponatremia |
ORPHA:91355 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia |
ORPHA:275761 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... |
ORPHA:276 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Cystinosis, Nephropathic |
|
Hyponatremia, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagnesemia, Hypopho... |
OMIM:219800 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... |
OMIM:615934 |
Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level, Increased total bilirubin |
ORPHA:2137 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating antibody level, Decreased circulating total IgM, Hypoalbuminemia, Hypocalce... |
ORPHA:90362 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... |
ORPHA:91139 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Hypoalbuminemia, Abnormal circulating IgG level |
OMIM:226990 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Decreased circulating total IgA, Decreased... |
OMIM:619381 |
Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level |
OMIM:615816 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... |
ORPHA:86816 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Increased circulating IgA level, Abnorma... |
ORPHA:2298 |
Pgm3-Cdg |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:443811 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Increased circulating IgG4 level |
ORPHA:64744 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level, Hyperbilirubinemia |
ORPHA:562639 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Tick-Borne Encephalitis |
|
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... |
ORPHA:297 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Increase... |
ORPHA:449395 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... |
OMIM:256040 |
Igg4-Related Pachymeningitis |
|
Complement deficiency, Increased circulating IgG4 level, Elevated circulating C-reactive protein ... |
ORPHA:449427 |
Rift Valley Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating C-reactive... |
ORPHA:1304 |
Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449563 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level |
ORPHA:79078 |
Crimean-Congo Hemorrhagic Fever |
|
Increased circulating IgG level, Increased circulating IgM level, Elevated circulating creatine k... |
ORPHA:99827 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Elevated circulating creatinine concentration, Elevated circulat... |
ORPHA:91500 |
Viss Syndrome |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:619472 |