| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalc... |
OMIM:612526 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Hyponatremia, Hypomagnesemia |
OMIM:620152 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Hyperalaninemia, Low plasma citrulline, Hyper... |
OMIM:615751 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures, Hyperkalemia |
ORPHA:199296 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia |
OMIM:610021 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Hypocalcemia, Cardiomegaly,... |
OMIM:601005 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Hepatomegaly, Elevated plasma citrulline, Inc... |
ORPHA:3008 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia |
ORPHA:529799 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:614736 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypoalbuminemia |
OMIM:615508 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... |
ORPHA:94093 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:610600 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:203400 |
| Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Atrial septal defect, Increased C-peptide level, Hypoglycemic seizures, Hyperinsu... |
OMIM:620211 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Propionic Acidemia |
|
Cardiomyopathy, Hyperammonemia, Hepatomegaly, Hypoglycemia |
ORPHA:35 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hyperammonemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, E... |
ORPHA:26793 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Hypocalcemia |
ORPHA:210110 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia |
OMIM:300971 |
| Colchicine Poisoning |
|
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypon... |
ORPHA:31824 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:177735 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia, Hypoglycemia |
ORPHA:173 |
| Ornithine Transcarbamylase Deficiency |
|
Hyperammonemia, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556037 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Diabetes mellitus, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia |
OMIM:613845 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Double... |
ORPHA:3426 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse, Hypocalcemia |
ORPHA:1563 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia, Hypoglycemia |
OMIM:306000 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:175500 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoketotic hyp... |
OMIM:600649 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Hypocalcemia, Hypoketotic hypoglycemia, Left ventricular hypertrophy |
ORPHA:746 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556030 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating fumarate concentration, Atrial septal defect, Hyperalaninemi... |
OMIM:615160 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Pericardial effusion, Hyponatremia, Hypoalbum... |
OMIM:618183 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Abnormal heart morphology |
ORPHA:391673 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Hepatomegaly, Increased total bilirubin... |
OMIM:267700 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
| Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:682 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Patent foramen ovale, Hypocalcemia, Hypoglycemia |
OMIM:607143 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hyperuricemia, Hypoglycemia, Splenomegaly |
OMIM:261750 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypomagnesemia, Pericardial effusion, Hypocalcemia, Hypoalbuminemia |
ORPHA:90362 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Atrial septal defect, Hepatomegaly,... |
ORPHA:1667 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hyperammonemia, Hypoglycemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:259700 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic... |
ORPHA:411634 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94089 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hypoglycemic seizures, Hyperkalemia, Hypertrophic cardiomyopathy, Ketotic hypoglycemia |
ORPHA:361 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:171876 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatremia, Calcinosis |
OMIM:617913 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Hypocalcemia, Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia |
ORPHA:73224 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splenomegaly |
OMIM:235255 |
| Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Increased serum iron, Increased circulating ferritin concentrati... |
OMIM:231100 |
| Isotretinoin-Like Syndrome |
|
Conotruncal defect, Abnormal cardiac atrium morphology, Bicuspid aortic valve, Aortic valve steno... |
ORPHA:2306 |
| Whipple Disease |
|
Myocarditis, Hepatomegaly, Splenomegaly, Insulin resistance, Pericarditis, Hyponatremia |
ORPHA:3452 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hyponatremia, Hypercalcemia |
ORPHA:199299 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Hepatomegaly, Increased total bilirubin, Hypertriglyceridemi... |
OMIM:603553 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Hypocalcemia, Splen... |
ORPHA:1655 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia, Abnormal heart morphology |
ORPHA:2237 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Hyponatremia, Abnormal circulating porphyrin ... |
ORPHA:100924 |
| Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Legionnaires Disease |
|
Myocarditis, Endocarditis, Splenomegaly, Pericarditis, Hyponatremia |
ORPHA:549 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
ORPHA:90790 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Decreased prealbumin level, Splenomegaly, Hypomagnesemia, Hypoc... |
ORPHA:37042 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Glycosuria, Hyperkalemia |
ORPHA:97362 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Splenomegaly, Hypoalbuminemia |
OMIM:619381 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:617053 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:427 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Hypocalcemia |
OMIM:212750 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Gitelman Syndrome |
|
Maternal diabetes, Hypermagnesemia, Hypokalemia, Glucose intolerance, Type II diabetes mellitus, ... |
ORPHA:358 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia |
ORPHA:90791 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Elevated circulating creatine kinase concentration, Hypocalcemia, Hypoalbuminemia, E... |
ORPHA:36234 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Hypoglycemia, Hyponatremia, Hyper... |
ORPHA:95409 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79444 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Pearson Syndrome |
|
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hyperalaninemia, Cardiomyopathy, Hepatomegaly, H... |
ORPHA:699 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| Hepatocellular Carcinoma |
|
Hepatomegaly, Hypokalemia, Hyperbilirubinemia, Type II diabetes mellitus, Hypoglycemia, Hyponatre... |
ORPHA:88673 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Hepatomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly |
OMIM:259720 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Cardiomyopathy, Hepatomegaly, Increased serum iron, Glucose intolerance, Incre... |
OMIM:235200 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypoglycemia |
OMIM:613027 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Transient hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase conc... |
OMIM:255120 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypophosphatemia, Hepatomegaly, Splenomegaly, Calcinosis |
OMIM:239200 |
| Alg12-Cdg |
|
Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal defect, Patent for... |
ORPHA:79324 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Hyponatremia |
ORPHA:544482 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hepatomegaly, Hypoglycemia |
OMIM:616026 |
| Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Ventricular septal defect |
OMIM:192430 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Shigellosis |
|
Myocarditis, Abnormal blood ion concentration, Hyponatremia, Hypoglycemia |
ORPHA:810 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Hyperammonemia, Hepatomegaly, Elevated circulating creati... |
OMIM:610505 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hyperammonemia, Hypoglycemia |
OMIM:616483 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79443 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Insulin resistance, Common atrium, Hypercalcemia |
ORPHA:96168 |
| Addison Disease |
|
Hyperuricemia, Increased circulating renin level, Hyperkalemia, Type I diabetes mellitus, Hypogly... |
ORPHA:85138 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia |
ORPHA:95613 |
| Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypocalcemia, Ventricular septal defect |
OMIM:300712 |
| Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Left atrial enlargement, Ventricular septal defect, Elevated cir... |
OMIM:619991 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Cardiomyopathy, Hepatomegaly, Hypocalcemia |
ORPHA:175 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Ventricular septal defect |
ORPHA:163979 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Hyponatremia, Hyperkalemia |
ORPHA:293978 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Hypophosphatemia, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:667 |
| Cystinosis, Nephropathic |
|
Hypophosphatemia, Glycosuria, Diabetes mellitus, Hepatomegaly, Hypokalemia, Hypophosphatemic rick... |
OMIM:219800 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... |
ORPHA:168558 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Diabetes mellitus, Ventricular septal d... |
ORPHA:2162 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Increased circulating renin level, Hyperkalemia, Abnormal circulating chol... |
ORPHA:289548 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia |
ORPHA:91355 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoglycemia, Hypoalbuminemia |
OMIM:613658 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen, Enlarged kidney |
ORPHA:251004 |
| Hennekam Syndrome |
|
Pericardial effusion, Hypocalcemia, Splenomegaly |
ORPHA:2136 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Diabetes mellitus, Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Ventricular septal defect, Atrial septa... |
ORPHA:567 |
| Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypertriglyceridemia, Pericardial effusion, In... |
ORPHA:167 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hyponatremia, Hypokalemia, Elevated circulating creatinine conce... |
ORPHA:90038 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypochloremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Mastocytosis |
|
Hepatomegaly, Splenomegaly, Hypercalcemia |
ORPHA:98292 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Hepatomegaly, Hypocalcemia |
OMIM:218330 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Bartter Syndrome Type 4 |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hypercholesterolemia, Hyperkalemia, Hypertriglyceridemia, Hyponatremia |
ORPHA:275761 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Hypercalcemia |
ORPHA:405 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Complete atrioventricular canal defect |
ORPHA:476126 |
| Multiple Myeloma |
|
Hyperproteinemia, Splenomegaly, Hypercalcemia, Elevated circulating creatinine concentration |
ORPHA:29073 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Hypoplastic left heart, Ventricular septal defect, Mitral atresia, Subvalvula... |
OMIM:619503 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany |
ORPHA:93325 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Abnormal heart morphology, Hypertriglyceridemia, Restrictive cardiomyopathy... |
ORPHA:369837 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
| Vipoma |
|
Diabetes mellitus, Hepatomegaly, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia |
ORPHA:534 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperlipidemia, Hyponatremia, Hyperkalemia |
ORPHA:293987 |
| Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Neonatal hypoglycemia, Hypochloremia, Hyponatremia, Hyperkalemia |
ORPHA:90794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Enlarged kidney, Splenomegaly, Increased serum bile acid concentration, Hypon... |
ORPHA:731 |
| Johanson-Blizzard Syndrome |
|
Situs inversus totalis, Ventricular septal defect, Diabetes mellitus, Atrial septal defect, Hepat... |
OMIM:243800 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypochloremia, Hyperchloriduria, Increased circulating renin level, Hypokalemia, Increased serum ... |
OMIM:601678 |
| Charge Syndrome |
|
Dysplastic tricuspid valve, Secundum atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot... |
OMIM:214800 |
| Digeorge Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia, Truncus arteriosus, Splenomegaly |
OMIM:188400 |
| Somatostatinoma |
|
Diabetes mellitus, Hepatomegaly, Hypercalcemia |
ORPHA:97283 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased glucagon level, Fasting hyperinsulinemia, Hypercalcemia, Hyperinsulinemic hypoglycemia |
ORPHA:276152 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets |
ORPHA:289176 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
| Glucagonoma |
|
Diabetes mellitus, Hepatomegaly, Hypercalcemia |
ORPHA:97280 |
| Ppoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97278 |
| Zollinger-Ellison Syndrome |
|
Increased glucagon level, Hypercalcemia |
ORPHA:913 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating renin level, Hypoglycemia, Hyperkalemia |
OMIM:201750 |
| Grfoma |
|
Hepatomegaly, Hypercalcemia |
ORPHA:97261 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hypocalcemic seizures, Hepatomegaly, Splenomegaly |
OMIM:612301 |
| Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Pulmonic stenosis, Tetralogy of Fallot, Ventricular sep... |
ORPHA:904 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Williams-Beuren Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Diabetes mellitus, Coronary artery stenosis, Atrial... |
OMIM:194050 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
| Sotos Syndrome |
|
Neonatal hypoglycemia, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology... |
ORPHA:821 |
| Sarcoidosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:797 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
|
OMIM:619025 |
