| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Irritability |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Irritability |
OMIM:304800 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... |
OMIM:300539 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... |
OMIM:618204 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... |
OMIM:615751 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556037 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Central Diabetes Insipidus |
|
Hyponatremia, Depression |
ORPHA:178029 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka... |
ORPHA:556030 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... |
OMIM:615513 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Depression |
ORPHA:163921 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... |
ORPHA:3008 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia |
OMIM:240200 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Hypernatremia |
OMIM:615508 |
| Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hyperglycinemia, Hypernatremia, Irritability |
OMIM:620423 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
OMIM:614736 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentration, Hyponat... |
ORPHA:100924 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:199296 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression |
ORPHA:83601 |
| Morgagni-Stewart-Morel Syndrome |
|
Depression, Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Cog4-Cdg |
|
Hypercholesterolemia, Irritability |
ORPHA:263501 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Decreased HDL cholesterol concentration, Hyperlipidemia, Irritability, Ac... |
ORPHA:247585 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia |
OMIM:618108 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Irritab... |
OMIM:603553 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypokalemia |
OMIM:605635 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
| Cholera |
|
Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, Abnormal blood ion concentration |
ORPHA:173 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level |
OMIM:300200 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
| Immunodeficiency 115 With Autoinflammation |
|
Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly |
OMIM:620632 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyponatremia, Hyperammonemia |
ORPHA:1667 |
| Generalized Pustular Psoriasis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia |
ORPHA:247353 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia |
OMIM:619381 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
| Whipple Disease |
|
Hyponatremia, Depression |
ORPHA:3452 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Irritability, Hypokalemia, Hyponatremia, Unconjuga... |
ORPHA:90038 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:361 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level |
ORPHA:90791 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia |
ORPHA:97362 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hyperaldosteronism, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia,... |
ORPHA:89938 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia |
ORPHA:90790 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
| Mirage Syndrome |
|
Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... |
ORPHA:95409 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Depression, Hyperc... |
ORPHA:90674 |
| Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95512 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Alg12-Cdg |
|
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:95513 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto... |
OMIM:615607 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis |
OMIM:617913 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... |
ORPHA:572 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
| Pituitary Apoplexy |
|
Hyponatremia, Increased circulating cortisol level |
ORPHA:95613 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Depression |
ORPHA:79276 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... |
ORPHA:168558 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve... |
ORPHA:289548 |
| Pgm3-Cdg |
|
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous abscess, Lymphopenia, Leukop... |
ORPHA:443811 |
| Addison Disease |
|
Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, I... |
ORPHA:85138 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:293978 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Depression, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia... |
ORPHA:534 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Shigellosis |
|
Hyponatremia, Abnormal blood ion concentration |
ORPHA:810 |
| Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level |
ORPHA:91355 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... |
OMIM:606367 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
| Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... |
ORPHA:79124 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
| Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Depression, Hyperlipidemia, Emotional lability |
ORPHA:293987 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, I... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Steinert Myotonic Dystrophy |
|
Depression, Hypercholesterolemia, Emotional lability |
ORPHA:273 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, T lymphocytopenia, Decreased proportion of naive T cells, Coombs-positive ... |
ORPHA:83471 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia |
OMIM:607944 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Microcytic anemia, T lymphocytopenia |
ORPHA:2959 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol level, Elevated s... |
OMIM:201750 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... |
ORPHA:508533 |
| Vici Syndrome |
|
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... |
OMIM:242840 |
| Agammaglobulinemia, X-Linked |
|
Anemia, T lymphocytopenia, Neutropenia, B lymphocytopenia |
OMIM:300755 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia |
OMIM:618223 |
| Nijmegen Breakage Syndrome |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia |
OMIM:251260 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
