| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
| Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment |
ORPHA:673 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
| Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Memory impairment |
ORPHA:79234 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
| Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive |
OMIM:129850 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity, Aggressive behavior |
ORPHA:356996 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:620010 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hyperbilirubinemia, Hypoglycemic seizures |
OMIM:609734 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... |
OMIM:246700 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Impaired glucose tolerance, Hypertriglyceridem... |
OMIM:610947 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
| Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cognitive impairment, Mental deterioration, Elevated circulating creatine kinase concentration, H... |
OMIM:208920 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hyperactivity, Hypoproteinemia, Decreased HDL cholesterol c... |
ORPHA:247585 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia, Paroxysmal bursts of laughter |
OMIM:618347 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... |
ORPHA:103910 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hyperactivity, Small for gestational age, Insulin resistance, Osteoporosis, Tr... |
ORPHA:73272 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Hyperglycinemia, Aggressive behavior, Irritability |
OMIM:605899 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Large for gestational age, Hypoglycemia, Attention deficit hyperactivity diso... |
OMIM:619075 |
| Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Maternal hyperphenylalaninemia, Hyperphenyla... |
OMIM:261600 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Glucose intolerance, Decreased body weight, Hyperinsulinemia, Abnorma... |
ORPHA:2298 |
| Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Mental deterioration, Hypoalbuminemia |
OMIM:617575 |
| Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Failure to thrive, Hyperbilirubinemia |
OMIM:614300 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Periostosis, Hyperostosis |
OMIM:614441 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia, W... |
ORPHA:398063 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:251880 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Irritability, Hypoalbuminemia |
OMIM:613070 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... |
OMIM:242150 |
| Wolcott-Rallison Syndrome |
|
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Neonatal insulin-dependent diabetes me... |
ORPHA:1667 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Irritability |
ORPHA:656 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
| Immunodeficiency 27A |
|
Weight loss, Hypoalbuminemia |
OMIM:209950 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... |
ORPHA:766 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Conjugated hyperbilirubi... |
OMIM:616860 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:616278 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Depression, Anxiety, Self-biting, Attention deficit hyperactivity disorder, Aggressi... |
ORPHA:293939 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia |
OMIM:269920 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Hypoglycemia, Conjugated hyperbili... |
OMIM:617049 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Progressive neurologic deterioration, Hypoglycemia, Hypoalbuminemia, Hyperalan... |
OMIM:618329 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Leishmaniasis |
|
Weight loss, Hypoalbuminemia |
ORPHA:507 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
| Hepatoportal Sclerosis |
|
Cognitive impairment, Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... |
ORPHA:86816 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Irritability, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia, Hyperuricemia, Neonatal ... |
ORPHA:348 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Eosinophilic Gastroenteritis |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
ORPHA:2070 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Irritability, Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification |
ORPHA:95717 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:308240 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Ménétrier Disease |
|
Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hypertriglyceridemia, Hyperactivity |
OMIM:615924 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Hyperactivity, Self-biting |
OMIM:618314 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Emotional lability, Hypoglycemia, Hyp... |
ORPHA:88673 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158057 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Depression, Abnormal circulating selenium concentration... |
ORPHA:89842 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Hyperbilirubinemia, Abnormal serum bile acid concentration, Conjugated hyperbi... |
ORPHA:79303 |
| Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Self-injurious behavior, Anxiety, Elevated circulating gamma-aminobutyric acid con... |
OMIM:271980 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Apathy, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperproline... |
ORPHA:3008 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Self-mutilation, Osteoporosis, Hypoalbuminemia, Weight loss, Irritability |
OMIM:619487 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:214950 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Rickets |
OMIM:211600 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Irritability, Hyperammonemia |
ORPHA:292 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Rickets |
OMIM:607765 |
| Coffin-Siris Syndrome 8 |
|
Failure to thrive, Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:618362 |
| Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria, ... |
ORPHA:2089 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior |
OMIM:309548 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Cognitive impairment, Memory impairment, Attention deficit... |
ORPHA:369873 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Decreased body weight, Hyperbilirubinemia, Elevated circulatin... |
OMIM:614886 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Chromosome 3Q29 Deletion Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Aggressive behavior |
OMIM:609425 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Depression, Hyperbilirubinemia, Increased serum bile acid concentration, Small for gestational age |
ORPHA:69665 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Abnormal circulati... |
ORPHA:95716 |
| Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior |
ORPHA:100973 |
| Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus, Narcolepsy |
OMIM:614250 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Hyperactivity |
OMIM:609727 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:235555 |
| Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Osteomalacia, Osteoporosis, Glyco... |
OMIM:277900 |
| Landau-Kleffner Syndrome |
|
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... |
ORPHA:98818 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:367 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Aggressive behavior |
OMIM:612716 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:619484 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Depression, Abnormal circula... |
ORPHA:90674 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Conjugated hyperbilirubinemia, Glycosuria |
OMIM:613404 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Personality disorder, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Anxiety, Hyperglycemia |
OMIM:618970 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Abnormal fear/anxiety-related behavior, Hypokalemia, Oste... |
OMIM:219090 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Increased bone mineral density, Hyperbilirubinemia, Decreased osteoclast count, Ost... |
OMIM:259720 |
| Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal circulating lipid concentr... |
ORPHA:186 |
| Mitchell-Riley Syndrome |
|
Hyperbilirubinemia, Hyperglycemia |
OMIM:615710 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Cachexia, Decreased prealbumin level, Abnormal blood ion concentrat... |
ORPHA:37042 |
| Alg12-Cdg |
|
Failure to thrive, Abnormal bone ossification, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia... |
ORPHA:79324 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... |
OMIM:608836 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase... |
ORPHA:79102 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, Hypocalcemia, Small for gestational age, Reduced bone mineral d... |
OMIM:613658 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:255249 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Maternal di... |
OMIM:604367 |
| Mirage Syndrome |
|
Decreased body weight, Radial club hand, Hypoglycemia, Hyponatremia, Hyperkalemia |
OMIM:617053 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia, Osteomalacia, Glycosuria, Rickets |
OMIM:134600 |
| Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Osteope... |
ORPHA:14 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Hyperk... |
ORPHA:361 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Obesity, Abnormal agg... |
ORPHA:3077 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Hyperactivity, Hypoalbuminemia |
OMIM:235510 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hyperactivity, Progressive psychomotor deterioration, Cognitive impairment, Hyp... |
ORPHA:363400 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperk... |
ORPHA:90791 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Depression, Narcolepsy, Memory impairment, Dementia |
OMIM:604121 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Hyponatremia, Hyperuricemia, ... |
ORPHA:95409 |
| Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Small for gestational age, Cognitive impairment, Hypermethioninemia, Abnormali... |
OMIM:222470 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia |
OMIM:608885 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Conjugated hyperbilirubinemia |
OMIM:601847 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Failure to thrive, Hypocholesterolemia, Hypoalbuminemia |
OMIM:212065 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anxiety, Hypern... |
ORPHA:94093 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Osteoporosis, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Addison Disease |
|
Failure to thrive, Increased circulating renin level, Hypoglycemia, Generalized bone demineraliza... |
ORPHA:85138 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Hypoalbuminemia |
ORPHA:67 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia |
OMIM:617303 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Abnormal circulating protein concentration |
ORPHA:86839 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Self-injurious behavior, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
| Autoimmune Hepatitis |
|
Depression, Increased total bilirubin, Anxiety |
ORPHA:2137 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive, Small for gestational age |
OMIM:218030 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level |
OMIM:266200 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia |
ORPHA:85443 |
| Primary Sclerosing Cholangitis |
|
Depression, Osteopenia, Osteoporosis, Type I diabetes mellitus, Hypoalbuminemia, Weight loss |
ORPHA:171 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss, Hyperbilirubinemia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:613673 |
| Juvenile Huntington Disease |
|
Hyperactivity, Depression, Weight loss, Irritability, Dementia |
ORPHA:248111 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Failure to thrive, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Cystic Echinococcosis |
|
Weight loss, Bone cyst, Hyperbilirubinemia |
ORPHA:400 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Rickets |
OMIM:602722 |
| Fumarase Deficiency |
|
Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
| Graft Versus Host Disease |
|
Failure to thrive, Hyperbilirubinemia, Irritability |
ORPHA:39812 |
| Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Osteomalacia, Glycosuria, Hypouricemia |
OMIM:227810 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Reduced bone mineral density, Osteoporosis, Increased circulating renin level,... |
ORPHA:168558 |
| Galloway-Mowat Syndrome 3 |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617729 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Reduced bone mineral density, Osteoporosis, Increased circulating renin level,... |
ORPHA:289548 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity |
OMIM:301013 |
| Adrenocortical Carcinoma |
|
Hypokalemia, Anxiety, Panic attack, Diabetes mellitus, Increased body weight, Weight loss, Irrita... |
ORPHA:1501 |
| Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets |
ORPHA:213 |
| Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia |
OMIM:179800 |
| Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Reduced haptoglobin level |
OMIM:611881 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, El... |
ORPHA:99826 |
| Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia... |
OMIM:229600 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Conjugated hyperbilirubinemia, Small for gestational age |
OMIM:208085 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Increased circulat... |
ORPHA:90673 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Small for gestational age |
OMIM:224120 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, H... |
OMIM:262190 |
| Rh Deficiency Syndrome |
|
Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Small for gestational age |
OMIM:251300 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Apathy, Osteoporosis, Abnormality of iron homeostas... |
ORPHA:465508 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Happy demeanor, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Anxiety, Impulsivity, Aggressive behavior |
ORPHA:101039 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Osteomalacia, Rickets |
OMIM:267200 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Hyperlipidemia, Self-injurious behavior, Depression, Aggressive behavior, Hyponatremi... |
ORPHA:293987 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin, Attention deficit hyperactivity disorder, Aggressive behavior, Suicida... |
ORPHA:84081 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hypo... |
ORPHA:90038 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia, Rickets |
OMIM:611590 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia |
OMIM:109270 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Neonatal hypogly... |
OMIM:617600 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Failure to thrive, Decreased body weight, Impulsivity, Hyperbilirubinemia, Hyperactivity, Cogniti... |
OMIM:619475 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion concentration, Hyponatremia, Irritabi... |
ORPHA:173 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Type I diabetes mellitus, Hyperbilirubinemia, Small for gestational age |
OMIM:557000 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... |
ORPHA:90363 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis, Hyperbilirubinemia, Osteolysis involvi... |
ORPHA:464321 |
| Smith-Lemli-Opitz Syndrome |
|
Failure to thrive, Elevated 7-dehydrocholesterol, Hyperactivity, Self-mutilation, Hypocholesterol... |
OMIM:270400 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Euphoria |
ORPHA:31826 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cognitive impairment, Cachexia, Hypertriglyceridemia, Psychomotor deterioratio... |
ORPHA:275761 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia |
ORPHA:505248 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia |
ORPHA:822 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Hypoalbuminemia |
ORPHA:79076 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Cachexia, Hyperactivity, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia |
OMIM:188580 |
| Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Hypocalcemia, Hyperinsulinemic h... |
OMIM:619991 |
| Infantile Nephropathic Cystinosis |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Cognitive impairment, Glycosuria, Abnormal bloo... |
ORPHA:411629 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Hypokalemia |
OMIM:613239 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Depression, Narcolepsy, Mental deterioration, Memory impairment |
ORPHA:314404 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Depression, Osteoporosis, Increased body weight, Hyperglycemia |
OMIM:615954 |
| Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Osteoporosis |
OMIM:607330 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet),... |
OMIM:608612 |
| Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Hypokalemia, Insulin resistance, Diabetic ketoacidosis, Increased C-p... |
ORPHA:769 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Irritability, Increased bone mineral density, Depression, Anx... |
ORPHA:94089 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
| Parenteral Nutrition-Associated Cholestasis |
|
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjuga... |
ORPHA:567983 |
| X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Cognitive impairment, Attention deficit hyperactivi... |
ORPHA:43 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Isolated Biliary Atresia |
|
Failure to thrive, Conjugated hyperbilirubinemia, Severe failure to thrive, Small for gestational... |
ORPHA:30391 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Unconjugated hyperbilirubinemia, Irritability |
OMIM:618278 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Osteomalacia, Glycosuria, Hypoglycemia, ... |
ORPHA:3337 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hypokalemia |
OMIM:304900 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Osteomalacia, Hypernatremia, Hypoalbuminem... |
OMIM:619381 |
| East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
ORPHA:199343 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Niemann-Pick Disease Type C |
|
Narcolepsy, Apathy, Cognitive impairment, Depression, Mental deterioration, Progressive neurologi... |
ORPHA:646 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level |
OMIM:218700 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia, Diabetes mellitus |
ORPHA:544482 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive |
ORPHA:320 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
| Caroli Disease |
|
Weight loss, Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
| Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Hardikar Syndrome |
|
Failure to thrive, Osteoporosis, Hyperbilirubinemia, Irritability |
OMIM:301068 |
| Ogden Syndrome |
|
Maternal diabetes, Hyperbilirubinemia, Irritability |
OMIM:300855 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Aggressive behavior |
ORPHA:163956 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Dense calvaria, Progressive neurologic deterioration |
OMIM:252920 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Osteopenia, Osteoporosis, Abnormal circulatin... |
ORPHA:79277 |
| Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hyperinsulinemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Progress... |
OMIM:248370 |
| Disseminated Sclerosis With Narcolepsy |
|
Narcolepsy |
OMIM:223300 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hypercholesterolem... |
ORPHA:90065 |
| Beta-Ketothiolase Deficiency |
|
Apathy, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia |
ORPHA:134 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration, Low fru... |
ORPHA:163681 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:613095 |
| Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Reduced bone mineral density, Weight loss, Increased serum bile a... |
OMIM:619377 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:466650 |
| Bartter Syndrome Type 4 |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Severe failure to thrive, Small for gestational a... |
ORPHA:89938 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Argininemia |
|
Hyperargininemia, Hyperactivity, Irritability, Hyperammonemia |
OMIM:207800 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Osteopenia, ... |
OMIM:619534 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Craniosynostosis |
OMIM:613610 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
| Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkal... |
ORPHA:340 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses |
OMIM:208500 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia, Small for gestational age |
ORPHA:391673 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Degcags Syndrome |
|
Failure to thrive, Hyperbilirubinemia, Craniosynostosis, Small for gestational age, Osteopenia |
OMIM:619488 |
