Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty,... |
OMIM:615961 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Abnormality of body we... |
ORPHA:314811 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulati... |
ORPHA:171706 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Short stature, Growth delay, Delayed ... |
ORPHA:314802 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevated circulating... |
OMIM:617872 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
OMIM:620211 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P... |
OMIM:262400 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Hypoglycemia, Short stature, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Short stature |
ORPHA:366 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Maturity-onset ... |
ORPHA:324575 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:619868 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... |
ORPHA:446 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hypoglycemia, Small for gestational age,... |
OMIM:615160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (w... |
OMIM:301008 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Failure to thrive, Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... |
OMIM:620010 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi... |
OMIM:614736 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Hepatocellular carcinom... |
ORPHA:369 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Mahvash Disease |
|
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... |
OMIM:619290 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Short sta... |
OMIM:613986 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Seizure, Neurodegeneration |
OMIM:613068 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Infantile spasms, Myoclonic seizure, ... |
OMIM:617113 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Isolated Focal Cortical Dysplasia |
|
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... |
ORPHA:65683 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... |
ORPHA:329249 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilat... |
ORPHA:98818 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Seizure, Cognitive impairment |
OMIM:238700 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Generalized myoclonic seizure, Cerebral atrophy, Neurodegeneration, Mental de... |
OMIM:610951 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Generalized-onset seizure, Cerebral atrophy, Seizure, Irritability |
OMIM:616657 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased h... |
OMIM:261750 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia, Short stature |
ORPHA:364 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Aggressive behavior... |
ORPHA:2382 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Insulin res... |
ORPHA:73272 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Growth delay, Hypogonadism, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... |
OMIM:600274 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Hartnup Disorder |
|
Hyperactivity, Seizure, Attention deficit hyperactivity disorder, Emotional lability, Generalized... |
OMIM:234500 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Abnormal eating behavior, Aggressive ... |
ORPHA:101039 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Decreased circulating aldosterone level... |
OMIM:610600 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... |
ORPHA:438274 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset trunc... |
ORPHA:71529 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Growth delay, H... |
ORPHA:3363 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Intrauterine growth retar... |
ORPHA:26792 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Hypoglycemia, Small for gestational age, Postnatal growth retardation, Decreased b... |
ORPHA:231140 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating branched chain amino acid conce... |
ORPHA:2394 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Cerebral atrophy, Seizure, Myoclonus, Mental deterioration, Neuronal loss in centr... |
OMIM:615924 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu... |
ORPHA:289504 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Fa... |
OMIM:613845 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... |
OMIM:251880 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Postnatal growth reta... |
ORPHA:453533 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Glycine Encephalopathy 1 |
|
Death in infancy, Hyperactivity, Restlessness, Impulsivity, Aggressive behavior, Agenesis of corp... |
OMIM:605899 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Amyloidosis of peripheral nerves, Confusion, Progressive forgetfulness, Dep... |
ORPHA:282166 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, P... |
ORPHA:2089 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Short stature, Small for gestational age, Precocious puberty, Insulin-resistant dia... |
OMIM:262190 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Postna... |
OMIM:227810 |
Rasmussen Subacute Encephalitis |
|
Subcortical cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure with generalized onse... |
ORPHA:1929 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t... |
ORPHA:2126 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Elevated cir... |
OMIM:618838 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Infantile spasms, Aggressive behavior, Self-injurious behavior, Seizure |
OMIM:619031 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Glycosuria, Elevated circulating creatinine concentration, Increas... |
OMIM:614817 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal dementia, Fr... |
ORPHA:412066 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Depression, Disinhibition, Hippocampal atrophy, Senile plaques, Memory i... |
OMIM:608907 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... |
ORPHA:254516 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... |
OMIM:300148 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Intr... |
OMIM:614702 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin ... |
ORPHA:79085 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
ORPHA:79303 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Increased total bil... |
ORPHA:890 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Seizure, Hippocampal at... |
OMIM:301107 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Seizure, Hyperactivity |
OMIM:613402 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Depression, Neurodegeneration, Compulsive behaviors, Mental deterioration, Motor tics |
OMIM:615643 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... |
ORPHA:90791 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Postnatal growth retardation, Increased insulin like growth factor bind... |
OMIM:619489 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Short... |
OMIM:616026 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Laron Syndrome |
|
Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed... |
ORPHA:633 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... |
ORPHA:435660 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Failure to thrive, D... |
OMIM:203400 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:199299 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
ORPHA:599373 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity |
ORPHA:436151 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Reduced circulating prolactin concentration, Increased blo... |
OMIM:223360 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Diaminopentanuria |
|
Seizure, Neurodegeneration |
OMIM:222350 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:614739 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated circu... |
ORPHA:2088 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoglycemia |
ORPHA:2022 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia |
OMIM:300438 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cerebral atrophy, Seizure, Inappropriate behavior, Neurodegenerat... |
ORPHA:309246 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Dysphagia, Mental deterioration... |
OMIM:617672 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemia, Adrenal hypoplas... |
ORPHA:95409 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Seizure, Dementia, Neurodegeneration, ... |
OMIM:300894 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Seizure, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics |
OMIM:619927 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia, Large for gestational age |
OMIM:619075 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Intrauterine growth retardation, Failu... |
OMIM:618958 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mannerisms |
OMIM:239500 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Depression, Seizure, Irritability, Dementia, Myoclonus, Cerebe... |
ORPHA:248111 |
Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... |
ORPHA:314652 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Growth delay,... |
OMIM:615453 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Hypoglycemia, Short stature, Small for gestational age |
ORPHA:231137 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Hypercalcem... |
ORPHA:85138 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Failure to thrive, Neon... |
OMIM:619046 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Failure to thrive |
OMIM:269920 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Short stature, Hy... |
OMIM:617053 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Short attention span, Hyperactivity, Impulsivity, Neurofibrillary tangles, Ce... |
OMIM:610217 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal... |
OMIM:601847 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dementia, Neurodegeneration, Depression |
OMIM:615889 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Dementia, Cognitive impairment, Senile plaq... |
OMIM:606889 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... |
OMIM:606407 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Seizure, Diminished ability to concentrate, Febrile seizure (... |
OMIM:615516 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Seizure, Irritability, Compulsive behaviors, Atte... |
OMIM:261600 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... |
ORPHA:254531 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to t... |
OMIM:251000 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Hydrocephalus, Seizure, Abnormal repetitive mannerisms |
OMIM:619470 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Hypogonadotropic hypogonadism, Short stature, Hypoglycemia |
ORPHA:48431 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... |
ORPHA:79240 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myoclonic seizure, Low frustration tolerance, Abnormal repetitive mannerisms, Hyperactivity, Typi... |
ORPHA:168491 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El... |
ORPHA:289548 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Hydrocephalus, Growth delay, Hyperbilirubinemia, De... |
OMIM:614886 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute... |
ORPHA:168558 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Lateral ventricle dilatation, Elevated circulating glu... |
OMIM:231670 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Moderate... |
ORPHA:69076 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Hyperbilirubinemia |
OMIM:301094 |
Propionic Acidemia |
|
Hepatomegaly, Short stature, Hypoglycemia, Hyperammonemia, Hyperglycinemia, Failure to thrive, Pa... |
OMIM:606054 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Intrauterine growth retardation, Hypoglycemia, Hyperammonemia |
OMIM:618253 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbil... |
OMIM:211600 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Self-injurious behavior, Seiz... |
ORPHA:382 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Generaliz... |
OMIM:271980 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Short stature |
ORPHA:369873 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Short stature, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delayed puberty |
OMIM:616033 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:620300 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Hyperactivity, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
OMIM:300558 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... |
OMIM:609924 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Maple Syrup Urine Disease |
|
Pancreatitis, Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevate... |
OMIM:248600 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Hepatocellular carcinom... |
OMIM:232200 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Abnormal neu... |
ORPHA:163681 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Generalized-onset seizure, Aggressive behavior, Corpus callosu... |
ORPHA:228360 |
Fg Syndrome 3 |
|
Death in infancy, Hyperactivity, Fine hair, Frontal upsweep of hair, Sparse hair, Agenesis of cor... |
OMIM:300406 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Short stature, Adrenal hypoplasia, ... |
ORPHA:95496 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperparathyroidism,... |
OMIM:620366 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Short stature, Small for gestational age, Hyperkalemia, Growth delay, Glycosuria, F... |
ORPHA:97362 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Pitui... |
ORPHA:90674 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Impulsivity, Depression, Dementia, Ne... |
OMIM:614298 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Insulin res... |
ORPHA:528 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Glucose intolerance, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Severe failure t... |
OMIM:246200 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Hypophosphat... |
OMIM:229600 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Hypogonadism, Hypoalbuminemia, Adrenal insufficiency, Hypothy... |
OMIM:617575 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Status epilepticus, ... |
OMIM:620292 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Seizure, Neurodegeneration, Atrophy/Degeneration affecting the brainstem, Men... |
OMIM:612319 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:201475 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Small for gestational age, Proportionate short stature, Severe p... |
ORPHA:391408 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Small for gestational age, Hypo... |
OMIM:619055 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Apparent Mineralocorticoid Excess |
|
Short stature, Small for gestational age, Growth delay, Hypokalemia, Failure to thrive, Decreased... |
OMIM:218030 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Aggres... |
OMIM:610042 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Generalized myo... |
OMIM:618090 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Seizure, Brain atrophy, Bruxism, Abnormal repetitive mann... |
OMIM:618718 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... |
ORPHA:159 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Short stature, Precocious puberty, Insulin-r... |
ORPHA:769 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Hyperkalemia, Short stature |
ORPHA:757 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Ja... |
OMIM:611881 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... |
ORPHA:90673 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive behavior, Generalized... |
ORPHA:485350 |
Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... |
ORPHA:90794 |
Cystinosis |
|
Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia... |
ORPHA:213 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Prolonged neonatal jaun... |
OMIM:618892 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Irritabili... |
ORPHA:3077 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Growth delay, Increased circulating renin level, Adrenal insufficienc... |
ORPHA:427 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive |
OMIM:210210 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Short stature, Hypercalcemia, Obesity, Increased blood urea nitrogen, Delayed puberty |
ORPHA:251004 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... |
OMIM:618329 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Jaundice, Hyperuricemia, Cholelithiasis, Incr... |
OMIM:232800 |
Wilson Disease |
|
Hypoparathyroidism, Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin conc... |
OMIM:277900 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Hyperkalemia, Growth delay, Increased circulating creatine kinase M... |
OMIM:617595 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Hepa... |
OMIM:557000 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
ORPHA:79239 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... |
OMIM:131100 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hydrocephalus, Seizure, Neurodegeneration, Motor deterioration |
OMIM:245200 |
Tenorio Syndrome |
|
Hydrocephalus, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to... |
OMIM:619418 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperin... |
OMIM:602579 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperinsulinemia, Obesity, Type II diabetes mellitus |
ORPHA:3085 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Unconjugated hyperbil... |
OMIM:613673 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome |
OMIM:201910 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
D-Glyceric Aciduria |
|
Growth delay, Failure to thrive, Hypoglycemia, Nonketotic hyperglycinemia |
OMIM:220120 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Dysphagia, Depression, Neurodegenerati... |
OMIM:615157 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,... |
OMIM:620305 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati... |
ORPHA:26791 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... |
ORPHA:1227 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Pancreatic fibrosis, He... |
OMIM:232220 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I... |
OMIM:601198 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Jaundice, Cholecystitis, Unconjugated hyperbilirubine... |
OMIM:266200 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Short stature |
OMIM:248360 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Increased circul... |
OMIM:603553 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated cir... |
ORPHA:228308 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... |
ORPHA:2457 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hydrocephalus, Hypoglycemia |
OMIM:616355 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Subcortical dementia, Dementia, Neurodegeneration, Disinhibition, Dysphagia, Emotional lability |
OMIM:606159 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Small for gestational age, Hypoglycemia, Postnatal growth retardation, Intrauterine growth retard... |
ORPHA:397590 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Short stature, El... |
OMIM:608779 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Growth delay, Recurrent hypoglycemia, Delayed puberty, ... |
OMIM:616817 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Depression, Agitation, Neurodegeneration, Em... |
ORPHA:803 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:619685 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Obesity |
ORPHA:791 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Increased serum iron, Increased total iron binding ... |
ORPHA:98870 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic... |
OMIM:617600 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:480864 |
Hsd10 Disease, Infantile Type |
|
Hypoglycemia, Hyperammonemia |
ORPHA:391428 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Seizure, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Mild postnatal growth retardation, Splenomegaly, Hyperbi... |
OMIM:224120 |
Abeta Amyloidosis, Dutch Type |
|
Mental deterioration, Seizure, Dementia, Cerebral amyloid angiopathy |
ORPHA:100006 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Short stature, Hypoglycemia, Small for gestatio... |
OMIM:613658 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Growth delay, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... |
OMIM:203800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Dementia, Generalized amyloid deposition |
OMIM:105150 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ... |
OMIM:616878 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag... |
ORPHA:99827 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Intrauterine growth reta... |
ORPHA:2609 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Leprechaunism |
|
Hepatomegaly, Decreased body weight, Postnatal growth retardation, Insulin resistance, Hyperinsul... |
ORPHA:508 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Increased blood urea n... |
ORPHA:90321 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Hepatic steatos... |
OMIM:231530 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, In... |
OMIM:235200 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperglycerolemia, ... |
OMIM:307030 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Seizure, Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Hereditary Elliptocytosis |
|
Postnatal growth retardation, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaun... |
ORPHA:288 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Adrenoleukodystrophy |
|
Seizure, Dementia, Neurodegeneration, Attention deficit hyperactivity disorder, Mental deterioration |
OMIM:300100 |
Silver-Russell Syndrome 1 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly... |
OMIM:180860 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Failure to thrive, Hepati... |
ORPHA:14 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Seizure, Attenti... |
OMIM:620242 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemorrhage, Bradycar... |
ORPHA:319213 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... |
OMIM:620141 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Growth delay, Hyperuricemia, Hypo... |
ORPHA:469 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Rhizomelia, Hypoglycemia, Hypocalcemia, Failure to thrive |
OMIM:607143 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Silver-Russell Syndrome |
|
Short stature, Failure to thrive in infancy, Cachexia, Precocious puberty, Postnatal growth retar... |
ORPHA:813 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, H... |
ORPHA:186 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Growth delay, Elevated circulati... |
ORPHA:66634 |
Apparent Mineralocorticoid Excess |
|
Short stature, Hypokalemia, Abnormality of circulating cortisol level, Intrauterine growth retard... |
ORPHA:320 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal... |
ORPHA:97282 |
Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, ... |
ORPHA:99845 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperactive renin-angiotensin system, Inc... |
OMIM:214700 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... |
OMIM:619991 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Growth delay, Glycosuria, Hypokalem... |
ORPHA:3337 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Simple feb... |
ORPHA:1942 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Brain atrophy, C... |
ORPHA:369939 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating aspartate ... |
OMIM:256810 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Short stature, Hepatocellula... |
ORPHA:79259 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Cerebral Visual Impairment |
|
Short attention span, Hydrocephalus, Central nervous system degeneration, Seizure, Neurodegenerat... |
ORPHA:447788 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi... |
ORPHA:464329 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic stea... |
ORPHA:746 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, D... |
ORPHA:280365 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hyperbilirubinemi... |
ORPHA:39812 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia,... |
OMIM:608885 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin, Failure to thrive |
ORPHA:778 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Growth delay, Glucose into... |
OMIM:608612 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Hypoglycemia, Large for gestational age |
OMIM:616638 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur... |
OMIM:154230 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Neonatal hyperbilirubinemia, Short stature |
ORPHA:293939 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, Growth delay, Hypoc... |
OMIM:259720 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Short stature, Premature thelarche, Iso... |
ORPHA:90795 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Se... |
ORPHA:449291 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Short stature, Decreased response to growth hormone ... |
ORPHA:293987 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... |
OMIM:232240 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hydrocephalus, Jaundice, Hyperammonemia,... |
ORPHA:79282 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Progressive neurologic deterioration, Seizure, Neur... |
OMIM:214150 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemi... |
OMIM:248370 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b... |
OMIM:274150 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia, Short stature |
ORPHA:66518 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Focal-onset seizure, Hydrocephalus, Seizure, Neurodegeneration, Inappropriate laughter, Cognitive... |
OMIM:618476 |
Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Pancreatic hypoplasia, H... |
OMIM:609069 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Postnata... |
ORPHA:96180 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Growth delay, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epile... |
OMIM:619913 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Increased circulating ferritin concentration, Splenomegaly, Intermittent ... |
ORPHA:3202 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ... |
OMIM:615577 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentra... |
OMIM:201810 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Elevated circulating as... |
OMIM:614866 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Hypoglycemia, Intrauterine growth retardation, Failure to thrive, Hypothyroidism |
OMIM:618005 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:529799 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Cerebellar atrophy, Impulsivity, ... |
ORPHA:35069 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Rh Deficiency Syndrome |
|
Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Intrauterine growth retardation, Reduced haptog... |
ORPHA:71275 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Jaundic... |
ORPHA:20 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Excessive ble... |
ORPHA:99826 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Short stature, Hypophosphatemia |
OMIM:134600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Growth delay, Hypokalemia, Short stature, Hyperamylasemia |
OMIM:604278 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Shigellosis |
|
Hyponatremia, Hypoglycemia, Failure to thrive in infancy, Peritonitis, Abnormal blood ion concent... |
ORPHA:810 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Growth delay, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:620275 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hyperbilirubinemia, Hepatic failure, Failure to thrive, Agenesis of cor... |
OMIM:606812 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Short stature, Conjugated hyperbilirubinemia, Postnatal growth retar... |
ORPHA:168577 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Neuronal loss in central nervou... |
OMIM:256600 |
Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Myoclonic seizure, Seizure, Dementia, Neurodegeneration |
OMIM:272750 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, He... |
ORPHA:699 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium |
ORPHA:100924 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia |
OMIM:301032 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Jaundice, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, G... |
ORPHA:447 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decreased g... |
OMIM:300908 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Short stature, Abn... |
ORPHA:79474 |
Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617190 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Leigh Syndrome |
|
Hypoglycemia, Growth delay, Hepatic failure, Hyperalaninemia, Failure to thrive, Agenesis of corp... |
ORPHA:506 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Myelomeningocele, ... |
OMIM:607330 |
Mucopolysaccharidosis, Type Iiib |
|
Seizure, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior |
OMIM:252920 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Alg12-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Recurr... |
ORPHA:79324 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Dementia, Progressive neurologic deterioration, Cerebral amyloid angiopathy |
OMIM:176500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Seizure, Neurodegeneration |
OMIM:620210 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Growth delay, Glycosur... |
ORPHA:411634 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Growth delay, Hypokalemia, Failure to thrive |
OMIM:602722 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Hydrocephalus, Cholestasis, Weight loss, Hypokalemia, Portal fi... |
OMIM:619377 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Confusion, Myelopathy, Limb myoclonus, Seizure, Dysphagia, M... |
ORPHA:139396 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Failure to thrive, Short stature, Hepatosplenomegaly |
OMIM:611590 |
Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Short stature, Hydrocephalus... |
OMIM:616007 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Attention deficit hyperactivity diso... |
ORPHA:43 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Hypoalbuminemi... |
OMIM:619534 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Growth delay, Hepatic steatosis, Neonatal hypoglyc... |
ORPHA:445038 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Growth delay, ... |
ORPHA:17 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Generalized-onset seizure, Self-biting, Seizure, Status epilepticus |
OMIM:618314 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
Holoprosencephaly |
|
Hyponatremia, Encephalocele, Diabetes mellitus, Hypoglycemia, Failure to thrive in infancy, Abnor... |
ORPHA:2162 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hypoglycemia |
ORPHA:565624 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Short stature, Hydrocephalus, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Pancreatitis |
ORPHA:544482 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Short stature, Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogen... |
OMIM:202010 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Ogden Syndrome |
|
Short stature, Maternal diabetes, Postnatal growth retardation, Microvesicular hepatic steatosis,... |
OMIM:300855 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia, Growth del... |
ORPHA:411629 |
East Syndrome |
|
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Seizure, Neurodegeneration, Status epilepticus, Neuronal loss in central nerv... |
OMIM:616239 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Phonic tics, Depression, Dementia, Neurodegeneration, Dysphagia, Menta... |
OMIM:234200 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, Hypokalemia... |
ORPHA:231625 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Short stature, Prolonged neonatal jaundice |
OMIM:233600 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenocortical adenoma, Decre... |
ORPHA:231632 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Hematochezia, Vasculitis, Subconjunctival hemorrhage, Vasculitis in the skin |
OMIM:617718 |
Sotos Syndrome |
|
Partial agenesis of the corpus callosum, Increased body weight, Glucose intolerance, Prolonged ne... |
OMIM:117550 |
Kabuki Syndrome 2 |
|
Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine growth retardati... |
OMIM:300867 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Growth delay, Hepatic failure, Hyperalaninemia, Failure... |
OMIM:252010 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Seizure, I... |
ORPHA:247585 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse... |
ORPHA:478029 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Infantile spasms, Aggressive behavior, Cerebral atrophy, Seizure, Irritability, Neurodegeneration... |
OMIM:618321 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Lateral ventricle dilatation, Hypoglycemia |
ORPHA:457279 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... |
ORPHA:3464 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Short stature, Failure to thrive in infancy, Splen... |
OMIM:219800 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Splenomegaly... |
OMIM:613610 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimo... |
ORPHA:109 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Short stature, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Panc... |
OMIM:208500 |
Amyloidosis, Familial Visceral |
|
Generalized amyloid deposition |
OMIM:105200 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level |
OMIM:611489 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia |
ORPHA:35173 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ... |
ORPHA:509 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Short stature, Small for gestational age, Increased VLDL cholest... |
OMIM:243800 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Delayed puberty, Hypermagnesemia... |
ORPHA:358 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat... |
ORPHA:90038 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Overweight, Hydrocephalus, Jaundice, Obesity, Hyperbilirubinemia, ... |
OMIM:619475 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Attention deficit hyperactivity disorder, Pulmonic stenosis, Supravalvar pul... |
OMIM:620185 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:613090 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Disproportionate short stature, Severe po... |
OMIM:210710 |
Perlman Syndrome |
|
Large for gestational age, Agenesis of corpus callosum, Pancreatic islet-cell hyperplasia, Hypogl... |
OMIM:267000 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia |
OMIM:614501 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
Retinoblastoma |
|
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... |
ORPHA:369929 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hypoglycemia |
ORPHA:572798 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Short sta... |
OMIM:601678 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Chole... |
OMIM:301066 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Hepatosplenomegaly, Unco... |
OMIM:618278 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Seizure, Amyloidosis, Dementia, Confusion |
OMIM:105210 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Deeah Syndrome |
|
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu... |
OMIM:619004 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Hypoglycemia |
OMIM:620224 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Cutaneous macular amyloidosis, Amyloidosis |
OMIM:615225 |
Degcags Syndrome |
|
Hepatomegaly, Small for gestational age, Cholestasis, Hepatosplenomegaly, Abnormal spleen morphol... |
OMIM:619488 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Hypoglycemia, Adrenal hypoplasia, Alobar holoprosencephaly, Short stature, Et... |
OMIM:236100 |
Yellow Fever |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
ORPHA:99829 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia |
OMIM:175500 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Gitelman Syndrome |
|
Hypomagnesemia, Growth delay, Hypokalemia, Increased circulating renin level, Delayed puberty, Fa... |
OMIM:263800 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensi... |
ORPHA:89938 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Increased hepatocellular lipid droplets, Microvesicular ... |
OMIM:220111 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con... |
ORPHA:116 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebral amyloid angiopathy |
OMIM:605714 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Fasting hypoglycemia |
ORPHA:25 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke |
OMIM:611773 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Aa Amyloidosis |
|
Amyloidosis, Renal amyloidosis |
ORPHA:85445 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short statu... |
OMIM:176270 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Increased circulating renin ... |
OMIM:607364 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Dementia, Neurodegeneration |
ORPHA:79244 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Short stature, Congenital hypothyroidism, Unconjugated hyperbilirubinemia,... |
OMIM:620186 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Proximal Renal Tubular Acidosis |
|
Mild postnatal growth retardation, Short stature, Bicarbonaturia, Growth delay, Hypokalemia, Glyc... |
ORPHA:47159 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Highly arched eyebrow, Abnormal repetitive mannerisms, Hyphema, Dysphagia, Lateral ventricle dila... |
ORPHA:261552 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Congestive heart failure, Vasculitis, Retinal h... |
ORPHA:33226 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Hyp... |
OMIM:241200 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Hair-pulling, Irritability, Brai... |
ORPHA:447997 |
Choreoacanthocytosis |
|
Caudate atrophy, Compulsive behaviors, Self-mutilation of tongue and lips due to involuntary move... |
ORPHA:2388 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Seizure, Irritability |
OMIM:207800 |
Nestor-Guillermo Progeria Syndrome |
|
Growth delay, Failure to thrive, Short stature, Decreased serum leptin |
OMIM:614008 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration, Dysphagia |
OMIM:615919 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Incontinentia Pigmenti |
|
Alopecia, Telangiectasia of the skin, Supernumerary nipple, Abnormal hair morphology, Congestive ... |
ORPHA:464 |
Rift Valley Fever |
|
Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding |
ORPHA:319251 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia |
ORPHA:163956 |
Menkes Disease |
|
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... |
ORPHA:466677 |
3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Jaundice, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive |
OMIM:602522 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Mucopolysaccharidosis, Type Ii |
|
Seizure, Hydrocephalus, Neurodegeneration |
OMIM:309900 |
Aapoaiv Amyloidosis |
|
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis |
ORPHA:439232 |
Hurler Syndrome |
|
Hydrocephalus, Neurodegeneration, Progressive neurologic deterioration |
OMIM:607014 |
Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Retinal hemorrhage, Fine hair, Coarse hair, Breast aplasia, Hypop... |
OMIM:308300 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob... |
ORPHA:373 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Slender build, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457359 |
Congenital Erythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:79277 |
Periodic Fever, Familial, Autosomal Dominant |
|
AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Costello Syndrome |
|
Hydrocephalus, Failure to thrive, Hypoglycemia, Short stature |
OMIM:218040 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Palpitations, Retinal hemorrhage |
ORPHA:86839 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Intrauterine growth retardation, Lateral ventricle dilatation, Neonatal hyperbilirubinemia |
OMIM:300896 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration, Cognitive impairment |
OMIM:146500 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Keppen-Lubinsky Syndrome |
|
Lateral ventricle dilatation, Failure to thrive, Decreased serum leptin |
OMIM:614098 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hydrocephalus, Neonatal hypoglycemia |
OMIM:261740 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Hyperthyroidism, Short stature |
OMIM:170390 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Short stature, Failure to thrive in infancy, High urinary gonadotr... |
ORPHA:881 |
Goodpasture Syndrome |
|
Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Growth delay, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hyperparathyroidism, Short stature, Hypoammonemia, Abnormal circulating calcium-pho... |
ORPHA:534 |
Helix Syndrome |
|
Hypokalemia, Hyperparathyroidism, Hypermagnesemia |
OMIM:617671 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair, Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Weight loss, Severe failure to t... |
ORPHA:740 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Mucopolysaccharidosis, Type Vii |
|
Hydrocephalus, Neurodegeneration |
OMIM:253220 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Hepato... |
OMIM:130650 |
Chediak-Higashi Syndrome |
|
Seizure, Neurodegeneration |
OMIM:214500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Nijmegen Breakage Syndrome |
|
Hyperactivity, Neurodegeneration |
OMIM:251260 |
Distal Renal Tubular Acidosis |
|
Growth delay, Hypokalemia, Failure to thrive, Short stature |
ORPHA:18 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Anorexia |
ORPHA:91500 |
Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
Cockayne Syndrome Type 3 |
|
Dry hair, Subdural hemorrhage, Retinal hemorrhage, Premature graying of hair, Cardiomyopathy, Inc... |
ORPHA:90324 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Eosinophilia |
ORPHA:98849 |
Trichinellosis |
|
Retinal hemorrhage, Dysphagia |
ORPHA:863 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Q Fever |
|
Amyloidosis, Anorexia |
ORPHA:781 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Familial Mediterranean Fever |
|
Amyloidosis, Renal amyloidosis |
OMIM:249100 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |
Primrose Syndrome |
|
Restlessness, Aggressive behavior, Self-injurious behavior, Seizure, Neurodegeneration, Tics, Att... |
OMIM:259050 |
Primary Sclerosing Cholangitis |
|
Amyloidosis, Abnormal eosinophil morphology, Depression |
ORPHA:171 |
Cockayne Syndrome |
|
Hypertension, Dry hair, Retinal hemorrhage, Fine hair |
ORPHA:191 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... |
ORPHA:79318 |
Sympathetic Ophthalmia |
|
Alopecia, Retinal hemorrhage, Poliosis |
ORPHA:79098 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage, Death in childhood |
OMIM:609049 |
Sotos Syndrome |
|
Hypothyroidism, Hypercalcemia, Neonatal hypoglycemia, Prolonged neonatal jaundice |
ORPHA:821 |
Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Left ventricular systoli... |
ORPHA:51608 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal neovascularization, Ischemic stroke, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:175780 |
Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia, Short stature |
ORPHA:286 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hydrocephalus, Hypogonadism, Short stature |
ORPHA:3042 |