| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Immunodeficiency 19 |
|
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology |
OMIM:615617 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| 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, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
| Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
| Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia |
OMIM:247800 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556037 |
| Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Anxiety, Hyperkalemia, Elevated circulating creatine kinase con... |
ORPHA:94093 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Central Diabetes Insipidus |
|
Anxiety, Hyponatremia |
ORPHA:178029 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556030 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Apathy, Neonatal hyperbilirub... |
ORPHA:3008 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... |
OMIM:615513 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Posttransplant Acute Limbic Encephalitis |
|
Anxiety, Hyponatremia |
ORPHA:163921 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Irritability, Increased LDL ... |
OMIM:267700 |
| Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-related behavior, Anxiety, Ap... |
ORPHA:100924 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Suicidal ideation, Hypercholesterolemia |
ORPHA:77296 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Cog4-Cdg |
|
Irritability, Hypercholesterolemia |
ORPHA:263501 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Head-banging, Self-mutilation, Hypercholesterolemia |
OMIM:182290 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
| Citrullinemia Type Ii |
|
Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... |
ORPHA:247585 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Irritability, Increased circulating ferritin concentration, Hypoprotei... |
OMIM:603553 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anxiety, Hyponatremia |
ORPHA:83601 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
| Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Irritability |
ORPHA:173 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
| Immunodeficiency 85 And Autoimmunity |
|
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... |
OMIM:619510 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... |
OMIM:300400 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... |
OMIM:242700 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Self-injurious behavior, Anxiety, Hypercholesterolemia |
ORPHA:819 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
| Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anxiety, Hyponatremia |
ORPHA:79473 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Emotional lability, Hypochlor... |
ORPHA:89938 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine conce... |
ORPHA:90038 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... |
OMIM:600802 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia |
OMIM:610163 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Apathy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95512 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Whipple Disease |
|
Hyponatremia |
ORPHA:3452 |
| Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Emotional lability, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:617913 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95513 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Hyponatremia |
ORPHA:95613 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
T lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Pancytopenia, Autoimmune... |
ORPHA:572 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
| Acute Intermittent Porphyria |
|
Anxiety, Hyponatremia |
ORPHA:79276 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Gaisböck Syndrome |
|
Hyperuricemia, Anxiety, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia... |
ORPHA:90041 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Anxiety, Hyperkalemia, Emotional lability, Hyperlip... |
ORPHA:293987 |
| Addison Disease |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Anxiety, Self-injurious behavior, Hypophosphatemia, Hypokalemia... |
ORPHA:534 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:91355 |
| Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
| Pgm3-Cdg |
|
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... |
ORPHA:443811 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
| Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Pancytopenia, Hepatosplenomegaly, ... |
ORPHA:79124 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia |
OMIM:242860 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Holoprosencephaly |
|
Hyponatremia |
ORPHA:2162 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Aggressive behavior, Elevated amniotic fluid alpha-fet... |
OMIM:309000 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
| Steinert Myotonic Dystrophy |
|
Emotional lability, Aggressive behavior, Anxiety, Hypercholesterolemia |
ORPHA:273 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia, Decreased... |
OMIM:208900 |
| Thymic Aplasia |
|
Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ... |
ORPHA:83471 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... |
OMIM:201750 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Neutropenia, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:607944 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
| Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:242840 |
| Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia |
OMIM:300755 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, T lymphocytopenia, Abnormal B cell morphology |
OMIM:618223 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
