Acid-Labile Subunit Deficiency |
|
Mild postnatal growth retardation, Insulin insensitivity, Delayed puberty, Reduced insulin like g... |
OMIM:615961 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased seru... |
ORPHA:314811 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Abnormal circulating insulin concentration, Short stature, Decreased circulating fr... |
ORPHA:171706 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Hypoglycemia, Delayed puberty, Growth delay, Decreased serum insulin-like growth f... |
ORPHA:314802 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Reduced circulating growth hormone concentration, Prolonged n... |
OMIM:262400 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia, Short stature |
ORPHA:366 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Diabe... |
ORPHA:181393 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Small for gestational age, Maturit... |
ORPHA:324575 |
Hyperlysinemia, Type I |
|
Hyperactivity, Seizure, Cognitive impairment |
OMIM:238700 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:619868 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Hypoinsu... |
ORPHA:552 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... |
OMIM:617156 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... |
OMIM:609734 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... |
ORPHA:446 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia, Intrauterine growth retardation, Severe short stature |
OMIM:223500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hyperammonemia, Small for gestational age, Increased serum pyruvate, El... |
OMIM:615160 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hydrocephalus, Jaundice |
OMIM:129850 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... |
OMIM:620010 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:369 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Abnormal neuron morphology, Diffuse c... |
ORPHA:412066 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration, Seizure |
OMIM:613068 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Hyperactivity, Focal impaired awareness seizure, Tonic seizure, Self-injurious be... |
OMIM:619970 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Depression, Neurodegeneration, Cerebellar atrophy, Dementia |
OMIM:615889 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Seizure |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Seizure |
ORPHA:356996 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Elevated circulating aspartate ... |
OMIM:619048 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, Hyperactivity, Generalized myoclonic seizure, Generaliz... |
ORPHA:2382 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... |
ORPHA:276556 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Insulin resistance, Small for gestatio... |
ORPHA:73272 |
Landau-Kleffner Syndrome |
|
Atypical absence seizure, Social and occupational deterioration, Focal motor seizure, Hyperactivi... |
ORPHA:98818 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Cerebral atrophy, Generalized-onset seizure, Seizure, Irritability |
OMIM:616657 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Cognitive impairment, Bilateral tonic-clonic seizure with focal... |
ORPHA:65683 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... |
OMIM:251880 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia, Short stature |
ORPHA:364 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Generalized myoclonic seizure, Mental deterioration, Neurodegeneration, Cerebel... |
OMIM:610951 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:619386 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia, Hypoglycemia, Hypogonadism, Growth delay |
ORPHA:163693 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Cerebral cortical atrophy, Hyperactivity, Impulsivity, Febrile seizure (within the age range of 3... |
OMIM:301008 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:614702 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Anxiety, Infantile spasms, Aggressive behavior, Seizure |
OMIM:619031 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... |
OMIM:610600 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... |
OMIM:613027 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Elevat... |
OMIM:212140 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Hyperchole... |
OMIM:610947 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hepatic failure, Elevated alpha-fetoprotein, Hyperammonemia, Cirrhosis, Elevat... |
OMIM:617049 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:67046 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Type II diabetes mellitus, Hepatomegaly, Splenomega... |
OMIM:616860 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Intrauterine growth retardat... |
ORPHA:26792 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Hyperbilirubinemia, Intermittent jaundice |
ORPHA:3111 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hypoglycemia, E... |
OMIM:617950 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... |
ORPHA:231140 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Hyper... |
ORPHA:1667 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Hypoglycemia, Elevated hepatic transaminase, Methylmalonic acidemia, Dicarboxy... |
ORPHA:289504 |
Female Restricted Epilepsy With Intellectual Disability |
|
Status epilepticus, Atypical absence seizure, Atonic seizure, Hyperactivity, Impulsivity, General... |
ORPHA:101039 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hepatic failure, Hyperisoleucinemia, Hypoglycemi... |
ORPHA:2394 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Short stature, Hypoglycemia, Hypertriglyceridem... |
OMIM:307030 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Atonic seizure, Hyperactivity, Impulsivity, Infantile spasms, Myoclonic... |
OMIM:617113 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... |
ORPHA:94086 |
Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Depression, Myoclonus, Anxiety, Bilateral tonic-clonic seizure, Attention d... |
OMIM:619191 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Depression, Mental deterioration, Anxiety, Memory impa... |
ORPHA:100070 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia, Growth delay |
OMIM:616111 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... |
OMIM:614817 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Abnormality of the peritoneum, ... |
ORPHA:2126 |
Rasmussen Subacute Encephalitis |
|
Focal impaired awareness seizure, Cerebral cortical hemiatrophy, Emotional lability, Focal motor ... |
ORPHA:1929 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Intrauterine growth retardation, Abnormal circulating acetylcarnitine concentr... |
ORPHA:71212 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive |
OMIM:610090 |
Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Apathy, Neuronal loss in central nervous system, Central nervous system degenerat... |
ORPHA:282166 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin-resistant dia... |
ORPHA:79085 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Intrauterine growth retardation... |
OMIM:618838 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Hyperactivity, Cerebral atrophy, Mental deterioration, M... |
OMIM:615924 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Neurodegeneration, Aggressive behavior, Cerebellar atrophy, Seizure, Dementia |
OMIM:300894 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Short stature, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Ketotic hypoglycemia |
ORPHA:79159 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, H... |
OMIM:616278 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Birth length le... |
OMIM:300148 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... |
ORPHA:254516 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Hypoglycemia, Intrauterine growth retardation, Small for gestational age |
ORPHA:231147 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypoglycemia, Intrauterine growth retardation, Hyperammonemia |
OMIM:618253 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hepatic failure, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Postnatal growth retar... |
ORPHA:79303 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Growth delay, Hyperinsulinemia, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Pyruvate Carboxylase Deficiency |
|
Hyperalaninemia, Increased serum pyruvate, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Increased body weight, Ja... |
ORPHA:890 |
Laron Syndrome |
|
Abnormality of the endocrine system, Severe short stature, Truncal obesity, Hypoglycemia, Delayed... |
ORPHA:633 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased serum... |
ORPHA:435660 |
Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature, Increased insulin like gro... |
OMIM:619489 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Reduced radi... |
ORPHA:95715 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Short stature, Glycosuria, Hypoglycemia, Elevated hepatic transam... |
OMIM:616026 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... |
OMIM:203400 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating reni... |
ORPHA:171876 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Abnormal ... |
ORPHA:280356 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Decreased HDL cholesterol concentration, ... |
OMIM:604367 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Myoclonic Epilepsy Of Infancy |
|
Generalized myoclonic seizure, Mental deterioration, Myoclonus, Febrile seizure (within the age r... |
ORPHA:86909 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Increased circulating renin level, Hyper... |
OMIM:177735 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Hepatic failure, I... |
ORPHA:2088 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolact... |
OMIM:223360 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:600649 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splen... |
OMIM:607765 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... |
OMIM:613370 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Self-injurious behavior, Inappropriate behavior, Memory impairment, Self-biting, N... |
OMIM:619827 |
Endocardial Fibroelastosis |
|
Hypoglycemia, Anterior hypopituitarism |
ORPHA:2022 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebral atrophy, Cerebellar atrophy, Seizure |
OMIM:609924 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Failure to thrive, Hypertaurinemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:245400 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... |
OMIM:615710 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Increased total bilirubin, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated circulating alanine ... |
OMIM:261680 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Diaminopentanuria |
|
Neurodegeneration, Seizure |
OMIM:222350 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... |
OMIM:618835 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Elevated circulating tiglylglycine concentration |
OMIM:300438 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... |
OMIM:618839 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... |
OMIM:214950 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, ... |
OMIM:235555 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Hepatomegaly, Cholestati... |
OMIM:613404 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Hypon... |
ORPHA:199296 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased serum leptin, Hypertriglyceridemia, Insulin... |
ORPHA:435651 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function, Failure to thrive |
ORPHA:67048 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... |
OMIM:618528 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine co... |
ORPHA:230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral atrophy, Axonal degeneration, Depression, Cognitive impairment, Anxiety, Neurodegenerati... |
OMIM:615157 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Seizure |
OMIM:613402 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Hyperactivity, Aggressive behavior, Seizure |
OMIM:604317 |
Glucocorticoid Deficiency 1 |
|
Failure to thrive, Decreased circulating cortisol level, Increased circulating ACTH level, Abnorm... |
OMIM:202200 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Impai... |
OMIM:606069 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... |
OMIM:264350 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Jaundice |
OMIM:616483 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Intrauterine growth... |
OMIM:618958 |
Addison Disease |
|
Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease... |
ORPHA:85138 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Seizure |
ORPHA:436151 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Fasting hypogly... |
ORPHA:348 |
Glycine Encephalopathy |
|
Hyperactivity, Agenesis of corpus callosum, Death in infancy |
OMIM:605899 |
Juvenile Huntington Disease |
|
Cerebellar vermis atrophy, Hyperactivity, Depression, Myoclonus, Cerebellar atrophy, Seizure, Irr... |
ORPHA:248111 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Large for gestational age, Hyperbilirubinemia |
OMIM:619075 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... |
ORPHA:264580 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Adrenal insufficiency, Reduced circulating prolactin concentration, Short stature, Panhypopituita... |
OMIM:262600 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Cerebral atrophy, Cognitive impairment, Anxiety, Inapprop... |
ORPHA:309246 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Seizure |
OMIM:300271 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperammonemia |
OMIM:614739 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr... |
ORPHA:95717 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Hypoglycemia, Postnatal growth retardation, Short stature, Small for gestational age |
ORPHA:231137 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia |
ORPHA:156 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Short s... |
OMIM:256810 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hydrocephalus, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Neonatal hypoglycemia... |
OMIM:619046 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Mirage Syndrome |
|
Adrenal insufficiency, Hydrocephalus, Decreased body weight, Short stature, Hypergonadotropic hyp... |
OMIM:617053 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Shashi-Pena Syndrome |
|
Hypoglycemia |
OMIM:617190 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Hyperactivity, Self-injurious behavior, Generalized myoclonic seizure, Anxiet... |
OMIM:271980 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Elevated circulating long chain fatty acid conce... |
OMIM:608836 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Mental deterioration, Depression, Neurodegeneration |
OMIM:615643 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... |
OMIM:601847 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebral atrophy, Mental deterioration, Neurodegeneration, Cerebellar ... |
OMIM:617672 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperp... |
ORPHA:3008 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperglycinemia, Met... |
OMIM:251000 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:289548 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Intrauterine growth retardation, Hepatic failure, Increased serum pyruvate, Hyperprolinemia, Hype... |
OMIM:619355 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemi... |
ORPHA:88673 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Adrenocorticotropic hormone excess, D... |
ORPHA:168558 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulation test, Hypergona... |
OMIM:606407 |
Alzheimer Disease 4 |
|
Senile plaques, Cognitive impairment, Memory impairment, Neurofibrillary tangles, Cerebral amyloi... |
OMIM:606889 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Impulsivity, Cerebral atrophy, Depression, Epileptic spasm, Generalized-onset seiz... |
ORPHA:88616 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Hypogonadotropic hypogonadism, Intrauterine growth retardation, Short stature |
ORPHA:48431 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Abnormal prolactin level, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:95619 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increa... |
ORPHA:79240 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, E... |
OMIM:212138 |
Mitochondrial Trifunctional Protein Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Small for ge... |
OMIM:609015 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hydrocephalus, Decreased body weight, Hyperbilirubinemia, Elevated circulating lo... |
OMIM:614886 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Hyperchol... |
ORPHA:254531 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... |
OMIM:617575 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase |
OMIM:616299 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Cortical myoclonus, Hyperactivity, Atonic seizure, Generalized myoclonic... |
ORPHA:168491 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Hypothyroidism |
OMIM:601005 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Conjugat... |
OMIM:211600 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Cln5 Disease |
|
Atrophy/Degeneration affecting the central nervous system, Hyperactivity, Cerebral cortical atrop... |
ORPHA:228360 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Progressive language deterioration, Mental deterioration, ... |
ORPHA:168782 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Guanidinoacetate Methyltransferase Deficiency |
|
Atonic seizure, Hyperactivity, Focal impaired awareness seizure, Generalized myoclonic seizure, S... |
ORPHA:382 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Variant Abeta2M Amyloidosis |
|
Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis of peripheral nerves, Cutaneous amyloidosis... |
ORPHA:314652 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Cerebral atrophy, Mental deterioration, Emotional lability, Neurodege... |
OMIM:610217 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating crea... |
ORPHA:370 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Small for gestational age, Abnormality of the pancreas, Cholecystitis, Hypoth... |
ORPHA:69665 |
Hyperprolinemia, Type I |
|
Status epilepticus, Hyperactivity, Aggressive behavior, Seizure |
OMIM:239500 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Propionic Acidemia |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Hyperammonemia, Short stature, Hypoglycemia, Hyper... |
OMIM:606054 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:766 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Short stature, Delayed puberty, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Hypoglycemia, Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive |
OMIM:210200 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Pancreatitis, Hepatomegaly, Intermittent jaundice, Conjugated hyperbilirubinemia, Increased serum... |
OMIM:243300 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Memory impairment, Neurofibrillary tangles, Global brain atrophy, ... |
OMIM:619132 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hypoglycemia... |
OMIM:232200 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia |
OMIM:246450 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia, Increased circulating ACTH level |
OMIM:607398 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Glycosuria, Hyp... |
OMIM:229600 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... |
OMIM:614921 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Cerebral cortical atrophy, Hyperactivity, Aggressive behavior, Seizure |
OMIM:300983 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Hyperactivity, Focal impaired awareness seizure, Self-injurious behavi... |
ORPHA:485350 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... |
ORPHA:79102 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Increased C-pep... |
ORPHA:528 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis, Elevated plasma branched chain amino acids, Elevated circulating L-al... |
OMIM:248600 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoglycemia, Hyperammonemia |
OMIM:615751 |
Glutaric Acidemia I |
|
Hypoglycemia, Failure to thrive, Hepatomegaly, Elevated circulating glutaric acid concentration |
OMIM:231670 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic st... |
OMIM:201450 |
Pituitary Stalk Interruption Syndrome |
|
Failure to thrive, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypoglycemia, A... |
ORPHA:95496 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... |
ORPHA:79302 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, Microvesicular hepatic steatosis, Acute hepatic failure, Macrov... |
OMIM:613070 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Glucose intolerance, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Seizure |
OMIM:248510 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... |
ORPHA:99901 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Decreased body weight, Small for gestational age, Severe postnatal growth retardation, Hypoglycem... |
ORPHA:391408 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Hyperactivity, Aggressive behavior, Seizure |
OMIM:619470 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Mental deterioration, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Cerebellar... |
OMIM:612319 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Agenesis of corpus callosum |
OMIM:274270 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Jaundice, Hyperkalemia |
OMIM:608885 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Seizure |
OMIM:618362 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Periportal fibrosis, Elevated hepatic transaminase, Conjugated hyperbilirubine... |
OMIM:619484 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Decreased plasma carnit... |
OMIM:210210 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... |
OMIM:267700 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... |
OMIM:218030 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... |
OMIM:619055 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Increased circ... |
ORPHA:427 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulati... |
OMIM:611881 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... |
ORPHA:769 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Prolonged neonatal jaun... |
OMIM:618892 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hepatic stea... |
ORPHA:363400 |
Cystinosis |
|
Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Short stature, ... |
ORPHA:213 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Generalized myoclonic seizure, Seizure |
OMIM:618090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... |
OMIM:220111 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity, Seizure |
ORPHA:521258 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... |
ORPHA:159 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Hyperkalemia, Short stature |
ORPHA:757 |
Acth Deficiency, Isolated |
|
Adrenocorticotropic hormone deficiency, Decreased circulating cortisol level, Cholestasis, Adrena... |
OMIM:201400 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Short stature, Delayed puberty, Hypercalcemia, Obesity |
ORPHA:251004 |
Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Hepatic f... |
OMIM:557000 |
Wilson Disease |
|
Hypoparathyroidism, Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia,... |
OMIM:277900 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Cerebellar vermis atrophy, Hyperactivity, Progressive language deterioration, Self-mutilation, Me... |
ORPHA:163681 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splen... |
OMIM:608779 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Impulsivity, Mental deterioration, Depression, Neurodegeneration, Abnormal lower motor neuron mor... |
OMIM:614298 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Intrauterine growth retardation, Short stature |
OMIM:618905 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Hypoproteinemia, Hyperammonemia, Small for gestational age, Hypoketot... |
ORPHA:26793 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, Jaundice, Abnormality of ... |
ORPHA:234 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Giant cell hepatitis, Cholestatic liver diseas... |
OMIM:208085 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Postnatal growth retardation, Small for gestational age, Maturity-onset diabe... |
ORPHA:96184 |
Krabbe Disease |
|
Hydrocephalus, Neurodegeneration, Diffuse cerebral atrophy, Motor deterioration, Seizure |
OMIM:245200 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Hepatosplenomegaly, Hypothyroidism... |
OMIM:613673 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity, Seizure |
OMIM:619927 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Jaundice, Hyperuricemia |
OMIM:232800 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Increased circulatin... |
ORPHA:90673 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypoglycemia |
ORPHA:5 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, He... |
ORPHA:157 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Birk-Landau-Perez Syndrome |
|
Agenesis of corpus callosum, Hyperkalemia, Increased circulating creatine kinase MB isoform, Grow... |
OMIM:617595 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... |
ORPHA:567983 |
Classic Galactosemia |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, Delayed puberty, Jaun... |
ORPHA:79239 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Failure to thrive, Hypoglycemia, Growth delay |
OMIM:220120 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Hypoglycemia, Elev... |
OMIM:618329 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Cholecystitis, Uncon... |
OMIM:266200 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Arrhythmia, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradyca... |
OMIM:617182 |
Fraxe Intellectual Disability |
|
Impulsivity, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hypermanganesem... |
OMIM:613280 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Peritoneal abscess, Abnormality of t... |
ORPHA:400 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hypocalcemia, Short... |
OMIM:601198 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Short stature, Pancreatic fibrosis, Hep... |
OMIM:232220 |
Tenorio Syndrome |
|
Hypoglycemia, Hydrocephalus, Hypoinsulinemia |
OMIM:616260 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Hypertriglyce... |
ORPHA:2457 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... |
ORPHA:26791 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Brain atrophy, Seizure, Paroxysmal bursts of laughter |
OMIM:618718 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Fumarase Deficiency |
|
Failure to thrive, Hyperbilirubinemia, Hepatic failure, Cholestasis, Agenesis of corpus callosum |
OMIM:606812 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypoglycemia, Hypothyroidism, Postnatal growth retardation, Intrauteri... |
ORPHA:397590 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Hyperbilirubinemia, Short stature, Elevated hepatic transaminase, Increased serum iron, Increased... |
ORPHA:98870 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, Hy... |
ORPHA:228308 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hypoglycemia, Hydrocephalus, Intrauterine growth retardation |
OMIM:616355 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Growth delay, Small for gestational age, Short stature, Hypothyroidism, Delayed puberty, Recurren... |
OMIM:616817 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior, Seizure |
OMIM:619467 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, S... |
OMIM:603553 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Decreased serum leptin, Hypogonadism |
OMIM:614962 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Hyperactivity, Anxiety, Bilateral tonic-clonic seizure, Aggressive behavior, Gener... |
OMIM:300558 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Growth delay, Hyperkalemia |
ORPHA:57 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Mild postnatal growth retardation, Small for gestational age, S... |
OMIM:224120 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:619685 |
Abeta Amyloidosis, Dutch Type |
|
Mental deterioration, Cerebral amyloid angiopathy, Seizure, Dementia |
ORPHA:100006 |
Proprotein Convertase 1/3 Deficiency |
|
Reactive hypoglycemia, Hypogonadotropic hypogonadism, Obesity, Decreased circulating cortisol level |
OMIM:600955 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Hypokalemia, Increased circulating c... |
ORPHA:786 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hepatic... |
OMIM:231680 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Hyperactivity, Aggressive behavior, Seizure, Abnormal agg... |
ORPHA:3077 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Seizure |
OMIM:300928 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Tyrosinemia, Type I |
|
Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Hepatic failure, Elevated alpha-fetopr... |
OMIM:276700 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition, Dementia |
OMIM:105150 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Prolonged neonatal jaundice, Neonatal hyperbili... |
ORPHA:288 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Conjugate... |
ORPHA:53035 |
Vipoma |
|
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97282 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Severe intrauterine growth retardation, Hyperinsul... |
ORPHA:508 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoglycemia, Hyperuricemia, Weight loss, Hyperglycemia |
ORPHA:134 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Depression, Anxiety, Neurodegeneration, Emotional lability, Motor ... |
ORPHA:803 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k... |
ORPHA:480864 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Decreased response to growth hormone st... |
OMIM:203800 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Increased blood urea nitrogen, Hepatomegaly, Elevated hepatic transaminase, Ma... |
ORPHA:90321 |
Lysosomal Acid Lipase Deficiency |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, A... |
ORPHA:275761 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Hyperammonemia, Premature thelarche, Elevated c... |
OMIM:616878 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Jaundice |
OMIM:235700 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Decreased liver function, Failure to thrive, Hypocalcemia, Intrauterine growth ret... |
OMIM:613658 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... |
OMIM:235200 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Hypoglycemic seizures, Growth delay, Hepatic... |
OMIM:231530 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity, Seizure |
OMIM:300979 |
Isolated Complex I Deficiency |
|
Failure to thrive, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Diabetes mellitus, Intra... |
ORPHA:2609 |
Pancreatic And Cerebellar Agenesis |
|
Failure to thrive, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus, Hyperglycemia |
OMIM:609069 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Primary Biliary Cholangitis |
|
Abnormality of the thyroid gland, Hepatic failure, Abnormal circulating lipid concentration, Cirr... |
ORPHA:186 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... |
ORPHA:95613 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Short stature, Abnormali... |
ORPHA:320 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... |
OMIM:301068 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hepatomegaly, Reactive hypoglycemia, Chronic hepatic failure, Hyperuricemia, Hy... |
ORPHA:469 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Brain atrophy, Hyperactivity, Aggressive behavior, Seizure |
OMIM:615286 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Cog8-Cdg |
|
Hypoglycemia, Elevated hepatic transaminase, Failure to thrive |
ORPHA:95428 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Elevated hepatic transaminase, Hyperphosphatemia, Highly elevated creatine kinase, ... |
ORPHA:99845 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Progressive language deterioration, Generalized-onset seizure, Aggressive behavior... |
OMIM:610042 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated hepatic transaminase, Increased t... |
ORPHA:91547 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Silver-Russell Syndrome |
|
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Short stature,... |
ORPHA:813 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Elevated circulating glutaric acid concentration, Hypothyroidis... |
ORPHA:66634 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... |
OMIM:219090 |
Gm2-Gangliosidosis, Ab Variant |
|
Apathy, Cerebral atrophy, Neurodegeneration, Seizure, Dementia |
OMIM:272750 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Hyperbilirubinemia, Hepatic failure, Cirrhosis, C... |
ORPHA:480520 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Glucose intolerance, Failure to thrive, Elevated circulating creatine kinase concentration, Impai... |
OMIM:610131 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, Increased circu... |
ORPHA:90793 |
Adrenoleukodystrophy |
|
Mental deterioration, Neurodegeneration, Attention deficit hyperactivity disorder, Seizure, Dementia |
OMIM:300100 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral cortical atrophy, Hyperactivity, Brain atrophy, Corpus callosum atrophy, Aggressive beha... |
ORPHA:369939 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Seizure |
OMIM:301013 |
Fanconi Renotubular Syndrome 1 |
|
Short stature, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
Smith-Kingsmore Syndrome |
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Hypoglycemia, Rhizomelia, Large for gestational age |
OMIM:616638 |
Silver-Russell Syndrome 1 |
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Decreased response to growth hormone stimulation test, Small for gestational age, Hepatocellular ... |
OMIM:180860 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Acute pancre... |
ORPHA:79086 |
Hemangioma-Thrombocytopenia Syndrome |
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Hyperkalemia |
OMIM:141000 |
Fanconi-Bickel Syndrome |
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Failure to thrive, Hypophosphatemia, Hypokalemia, Glycosuria, Hypouricemia |
OMIM:227810 |
Glycogen Storage Disease Ic |
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Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... |
OMIM:232240 |
Dehydrated Hereditary Stomatocytosis 2 |
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Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
Spherocytosis, Type 4 |
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Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Liver Disease, Severe Congenital |
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