| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Neonatal Hemochromatosis |
|
Increased serum iron, Increased circulating ferritin concentration, Hypoglycemia |
ORPHA:446 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Riboflavin Deficiency |
|
Hypoglycemia, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Increased total iron binding capacity |
OMIM:616278 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... |
ORPHA:766 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Gracile Syndrome |
|
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate |
OMIM:603358 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hyperbilirubinemia |
OMIM:613673 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Type II diabetes mel... |
OMIM:616860 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Hemochromatosis, Neonatal |
|
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostas... |
OMIM:231100 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia |
OMIM:613070 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Hyperalaninemia, Hyperammonemia, Elevated circulating sebacic acid concentration, E... |
OMIM:615160 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Maturity-onset diabetes of the... |
ORPHA:324575 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity |
ORPHA:98870 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypoglycemia, Hyperammonemia |
OMIM:617049 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Hemochromatosis, Type 4 |
|
Glucose intolerance, Impaired glucose tolerance, Elevated transferrin saturation, Increased circu... |
OMIM:606069 |
| Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Postprandial hyperglycemia, Episodic hypokalemia |
ORPHA:681 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity |
OMIM:613280 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus |
OMIM:610582 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron, Diabetes ... |
OMIM:604290 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia, ... |
ORPHA:348 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:613313 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia |
OMIM:617595 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus |
ORPHA:181393 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Insulin resistance, Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... |
ORPHA:79096 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Hyperbilirubinemia |
OMIM:615710 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Neonatal insulin-dependent dia... |
ORPHA:1667 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia |
ORPHA:94086 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglycinemi... |
OMIM:619386 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperammonemia |
OMIM:618120 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
| Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia |
ORPHA:79303 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hypernatremia, Neonatal hyperbilirubinemia, Hyperglycemia, Increased level of L-glu... |
ORPHA:3008 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Candidiasis, Familial, 2 |
|
Decreased serum iron |
OMIM:212050 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia |
OMIM:607765 |
| Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Hyperlipidemia |
OMIM:232400 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia |
OMIM:109270 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
| Hemochromatosis, Type 3 |
|
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:604250 |
| Mednik Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:171851 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Increased t... |
ORPHA:3202 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... |
ORPHA:53693 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemic seizures, Ketotic hypoglycemia |
ORPHA:361 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricemia, Hyperuricosuria, B... |
OMIM:229600 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia |
OMIM:618838 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
| Histidinemia |
|
Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
ORPHA:90790 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia |
ORPHA:90791 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
| Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
| Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubin... |
ORPHA:88673 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... |
ORPHA:79102 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Increased circulating ren... |
ORPHA:95409 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa... |
OMIM:608836 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Increased circulating ferritin concentration |
OMIM:602390 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Hyperammonemia |
OMIM:618253 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:615751 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:227810 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia, Low plasma citrulline |
OMIM:261680 |
| Mody |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... |
ORPHA:552 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Abnormal circulating copper concentration |
OMIM:121270 |
| Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hypoglycemia, Hyperuricemia, Type I diabetes mellitus,... |
ORPHA:85138 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypoglycemia, Diabetes mellitus, Glycosuria |
OMIM:616026 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Maple Syrup Urine Disease |
|
Elevated circulating L-alloisoleucine concentration, Hypoglycemia, Elevated plasma branched chain... |
OMIM:248600 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Biliary Malformation With Renal Tubular Insufficiency |
|
Conjugated hyperbilirubinemia, Glycosuria |
OMIM:210550 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Abnormal circulating apolipoprotein... |
ORPHA:14 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... |
ORPHA:168558 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyp... |
ORPHA:90038 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperglutaminemia, Hyperalanine... |
OMIM:619355 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:613027 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Neonatal hypoglycemia... |
ORPHA:289548 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Increased circulating ferritin concentration, Glucose intolerance, Diabetes... |
OMIM:235200 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
| Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
| Cystinosis |
|
Hypophosphatemia, Type I diabetes mellitus, Hypokalemia |
ORPHA:213 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| East Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
ORPHA:199343 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia |
OMIM:611590 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Hyperglycemia, Elevated transferrin saturation, Increased circul... |
ORPHA:465508 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration |
ORPHA:173 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia |
ORPHA:567983 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia |
OMIM:618839 |
| Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... |
ORPHA:300298 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Elevated hepatic iron concentration, Decreased serum iron, Decreased circulat... |
ORPHA:48818 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... |
ORPHA:3337 |
| African Iron Overload |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... |
ORPHA:139507 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabe... |
ORPHA:769 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
| Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Diabetes mellitus, Hypocalcemia |
ORPHA:544482 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:466650 |
| Lathosterolosis |
|
Hyperbilirubinemia, Abnormal circulating cholesterol concentration |
OMIM:607330 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:613090 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Glucose intolerance, Impaired glucose tolerance, Hypokalemia |
OMIM:219090 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Increased circulating renin level, Hypokalemia |
OMIM:607364 |
| Caroli Disease |
|
Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:275761 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoglycemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:612780 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Glycosuria, Inc... |
ORPHA:447 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia |
OMIM:218700 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
| Porphyria Cutanea Tarda |
|
Increased serum iron, Elevated hepatic iron concentration, Increased circulating ferritin concent... |
ORPHA:101330 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
| Helix Syndrome |
|
Hypermagnesemia, Hypokalemia |
OMIM:617671 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Diabetes mellitus, Elevated hepatic iron concentration |
ORPHA:231222 |
| Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Glycosuria, Hypokalemia, Abnormal blood ion concentration |
ORPHA:411629 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin |
ORPHA:84081 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypochloremia, Neonatal hypoglycemia |
ORPHA:90794 |
| Adrenocortical Carcinoma |
|
Diabetes mellitus, Hypokalemia |
ORPHA:1501 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:602522 |
| Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia |
ORPHA:369929 |
| Yellow Fever |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:99829 |
| Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia |
OMIM:619377 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Increased erythrocyte protoporphyrin concentration, Unconjugated hyper... |
ORPHA:79277 |
| Degcags Syndrome |
|
Hyperbilirubinemia |
OMIM:619488 |
| Leprechaunism |
|
Fasting hypoglycemia, Hypokalemia, Insulin resistance, Recurrent infantile hypoglycemia, Increase... |
ORPHA:508 |
| Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypoglycemia, Hypokalemia |
ORPHA:786 |
| Gitelman Syndrome |
|
Hypomagnesemia, Increased circulating renin level, Hypokalemia |
OMIM:263800 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... |
ORPHA:309854 |
| Tyrosinemia, Type I |
|
Hypoglycemia, Hypertyrosinemia, Elevated alpha-fetoprotein, Hypermethioninemia, Hypophosphatemic ... |
OMIM:276700 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... |
OMIM:619534 |
| Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Hypokalemia, Insulin resistance, Diabetic ketoacido... |
ORPHA:358 |
| Hardikar Syndrome |
|
Hyperbilirubinemia |
OMIM:301068 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
| Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia |
OMIM:222470 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Diabetes mellitus |
ORPHA:231226 |
| Nelson Syndrome |
|
Type II diabetes mellitus, Hypokalemia |
ORPHA:199244 |
| Scorpion Envenomation |
|
Hypokalemia, Hyperglycemia, Glycosuria, Increased circulating NT-proBNP concentration, Increased ... |
ORPHA:466677 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level |
ORPHA:89938 |
| Pearson Syndrome |
|
Hypokalemia, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagnesemia, Diabetes mellitus, Hy... |
ORPHA:699 |
| Vipoma |
|
Hypercalcemia, Diabetes mellitus, Hypokalemia |
ORPHA:97282 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Diabetes mellitus |
ORPHA:231214 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
| Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypoglycemia, Hypokalemia, Elevated circulating creatine kinase concentration, E... |
ORPHA:99826 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hyperchloriduria, I... |
OMIM:241200 |
| Proximal Renal Tubular Acidosis |
|
Glycosuria, Bicarbonaturia, Hypokalemia, Hyperuricosuria |
ORPHA:47159 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia |
OMIM:619573 |
| Distal Renal Tubular Acidosis |
|
Hypokalemia |
ORPHA:18 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
| Folate Malabsorption, Hereditary |
|
Athetosis, Ataxia |
OMIM:229050 |
| Hereditary Folate Malabsorption |
|
|
ORPHA:90045 |
