| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
| Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
| Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
| Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
| Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young |
OMIM:609812 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Abnormality of the liver |
DECIPHER:47 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
| 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 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
| Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Malaria |
|
Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:620010 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, E... |
ORPHA:552 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Cirrhosis, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Ataxia |
OMIM:239500 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
| Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness, Hyperglycinemia |
OMIM:605899 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Donohue Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... |
OMIM:246200 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
| Hyperlipoproteinemia, Type Iv |
|
Hypopituitarism, Glucose intolerance |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Glucose intolerance |
OMIM:145750 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Macronodular adrenal hyperplasia |
OMIM:615954 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Biliary cirrhosis, Fasting hypoglycemia, Enlarged polycystic ovaries, Enlarged ... |
ORPHA:2298 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia |
OMIM:609727 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Cryptorchidism |
OMIM:175700 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Ataxia |
OMIM:615924 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Choreoathetosis, Ataxia |
OMIM:612716 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
| Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Polyphagia |
OMIM:609734 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria |
OMIM:618090 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Diabetes mellitus, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:615935 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes mellitus, Testicular atrophy, H... |
ORPHA:465508 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder |
ORPHA:73272 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Ovarian cyst, Glucose int... |
OMIM:269880 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia, Attention deficit hyperactivity disorder |
OMIM:619075 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Ataxia |
ORPHA:713 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Polycystic ov... |
OMIM:151660 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Steppa... |
OMIM:613280 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
| Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Attention deficit hyperactivity disorder, Maternal hyperphe... |
OMIM:261600 |
| Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Impulsivity, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder |
ORPHA:293939 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Peritonitis, Abnormal glucose homeostasis |
ORPHA:391673 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Hyperbilirubinemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Ataxia, Increased LDL choles... |
OMIM:267700 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
| Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia |
OMIM:269920 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration |
OMIM:618892 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:614300 |
| Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Broad-based gait |
ORPHA:248111 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Athetosis, Ataxia |
ORPHA:382 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:79303 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypopituitarism |
ORPHA:90065 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, M... |
ORPHA:103918 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Diabetes mellitus, Exocrine pancreatic insuffici... |
OMIM:167800 |
| Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Portal hypertension |
ORPHA:440713 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Reduced pancreatic beta cell... |
ORPHA:99885 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Difficulty walking, Hyponatremia, Hypoalbuminemia |
ORPHA:1667 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:134 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Conjugated hyperbilirubinemia, Elevated hepatic iro... |
OMIM:616860 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia |
OMIM:235555 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum iron |
ORPHA:98870 |
| Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
| Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Diabetic ketoacidosis, Enlarged ovaries, Insulin resistance, Increase... |
ORPHA:769 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Hepatomegaly, Insulin-resistant diabetes mellitus, ... |
OMIM:248370 |
| Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Ataxia, Neonata... |
ORPHA:3008 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
| Abetalipoproteinemia |
|
Gait ataxia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Ataxia, Abnormal circul... |
ORPHA:14 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Ataxia, Increased circulating ferritin concentration, Hypoproteinemia,... |
OMIM:603553 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
| Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Hypoalbuminemia |
ORPHA:64743 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Ataxia |
OMIM:604121 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Elevated circulating long chain fatty... |
OMIM:608836 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hyperactivity, Hypomagnesemia |
OMIM:618314 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Hereditary Spherocytosis |
|
Hyperbilirubinemia, Ataxia |
ORPHA:822 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
| Hereditary Elliptocytosis |
|
Hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:288 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:251880 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Attention deficit hyperact... |
ORPHA:90674 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased circulating ferritin concentration, Neonatal hyperbilirubine... |
ORPHA:3202 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Hypoglycem... |
OMIM:124000 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Ataxia, Conjugated hyperbilirubinemia, Hyperkalemia, Inability to walk |
OMIM:608885 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia |
OMIM:613812 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Reduced haptoglobin level |
OMIM:613673 |
| Senior-Boichis Syndrome |
|
Agitation, Increased total bilirubin, Attention deficit hyperactivity disorder, Polydipsia |
ORPHA:84081 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
| Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration, Hy... |
OMIM:277900 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... |
OMIM:600001 |
| Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hy... |
ORPHA:247585 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Hyperbilirubinemia, Elevated circulating creatine kinase concentration |
OMIM:611881 |
| Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
| Graft Versus Host Disease |
|
Hyperbilirubinemia |
ORPHA:39812 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
| Cystic Echinococcosis |
|
Hyperbilirubinemia |
ORPHA:400 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Glycosuria, Type II diabetes mellitus, Hepatic stea... |
ORPHA:79474 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperactivity, Tip-toe gait, Falls, Hyperbilirubinemia, Agitation, Ataxia, Impulsivity, Attention... |
OMIM:619475 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Athetosis, Ataxia, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Leprechaunism |
|
Hyperinsulinemia, Enlarged ovaries, Insulin resistance, Recurrent infantile hypoglycemia, Postpra... |
ORPHA:508 |
| Autoimmune Hepatitis |
|
Increased total bilirubin |
ORPHA:2137 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy, Ataxia |
ORPHA:314404 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Increased circulating very long-chain fatty aci... |
OMIM:614866 |
| Scorpion Envenomation |
|
Hyperglycemia, Acute pancreatitis, Glycosuria |
ORPHA:466677 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia, Ataxia |
ORPHA:168577 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased response to gro... |
ORPHA:293987 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity |
ORPHA:85327 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
| Lathosterolosis |
|
Hyperbilirubinemia, Abnormal circulating cholesterol concentration |
OMIM:607330 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia |
ORPHA:567983 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:480520 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Argininemia |
|
Hyperactivity, Hyperammonemia, Hyperargininemia, Spastic gait |
OMIM:207800 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Dysphagia |
OMIM:300855 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
| Niemann-Pick Disease Type C |
|
Progressive gait ataxia, Gait disturbance, Ataxia, Narcolepsy, Dysphagia, Disinhibition |
ORPHA:646 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia |
OMIM:229600 |
| Caroli Disease |
|
Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia |
ORPHA:53035 |
| Pearson Marrow-Pancreas Syndrome |
|
Hyperbilirubinemia |
OMIM:557000 |
| Degcags Syndrome |
|
Choking episodes, Hyperbilirubinemia, Oral-pharyngeal dysphagia |
OMIM:619488 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hepatic stea... |
OMIM:220111 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:79102 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia |
OMIM:613610 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia |
ORPHA:30391 |
| Reynolds Syndrome |
|
Hyperbilirubinemia, Calcinosis |
OMIM:613471 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Hardikar Syndrome |
|
Hyperbilirubinemia |
OMIM:301068 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Increased blood... |
ORPHA:447 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Unconjugated hyperbilirubinemia |
OMIM:618278 |
| Congenital Erythropoietic Porphyria |
|
Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Increased erythroc... |
ORPHA:79277 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia |
OMIM:210710 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperactivity, Ataxia |
OMIM:620047 |
| African Trypanosomiasis |
|
Akinesia, Choreoathetosis, Gait disturbance, Narcolepsy, Difficulty walking |
ORPHA:3385 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
