Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:232700 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins... |
OMIM:262700 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Short stature, Hypoglycemia |
ORPHA:366 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... |
OMIM:610717 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Abnormality of the kidney, Proteinuri... |
ORPHA:369 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, 3-Methylglutaconic aciduria, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... |
OMIM:613027 |
Short Stature Due To Partial Ghr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay, Attention def... |
OMIM:620211 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Short Stature Due To Ghsr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Hypertriglyceridemia, Hepatic st... |
ORPHA:436182 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Ketotic hypoglycemia, Hyperlipidemia, Gl... |
ORPHA:2089 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Incr... |
ORPHA:293964 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Int... |
ORPHA:26792 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short stature, Splenomegaly, Insulin resis... |
OMIM:612526 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Polyphagia, Hypoglycem... |
ORPHA:276580 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Insulin resistance, Type II diabetes mellitus, Hypercholesterolemia, Hepati... |
OMIM:615703 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... |
ORPHA:276556 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... |
OMIM:306000 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Diffuse... |
ORPHA:276575 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Agitat... |
ORPHA:276608 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Aggressive behavior, Inabili... |
OMIM:300148 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Short stature, Growth delay, Decreased circulating free T3, Fasting hypoglycemia, Increased circu... |
ORPHA:171706 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinem... |
ORPHA:329249 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Hepatic... |
OMIM:232400 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Ataxia, Hypoglycemia |
OMIM:240800 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Splenomegaly, Growth delay, Increased muscle glycogen ... |
OMIM:261750 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Gait disturbance |
OMIM:618400 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Abnormal localization of kidney, Prolonged neonatal ja... |
ORPHA:446 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:2088 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Growth... |
OMIM:231530 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... |
ORPHA:280356 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... |
OMIM:201400 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Proportionate short ... |
ORPHA:71212 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperinsulinemia, Hyperhidrosis, Renal ... |
ORPHA:263455 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Short stature, Hypoglycemia |
ORPHA:364 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Decreased liver function, Leth... |
OMIM:246900 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:604367 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Hyperhidrosis, Neonatal hypoglycemia |
ORPHA:231140 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Proteinuria, Hypoglycemia, Mesangial h... |
OMIM:617575 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Short stature, Hepatosple... |
OMIM:619013 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Riboflavin Deficiency |
|
Lethargy, Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hypertriglyceridemia, Hepatomegaly, A... |
ORPHA:247585 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia, 3-Methylglutaconic aciduria, Gait imbalance, Lethargy |
OMIM:618120 |
3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal gro... |
OMIM:610198 |
Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
ORPHA:35 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypoglycemia |
OMIM:610090 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased urinary copper concentration, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Hepatocell... |
OMIM:232200 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotr... |
OMIM:278000 |
Rotor Syndrome |
|
Bilirubinuria, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes |
ORPHA:3111 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, A... |
ORPHA:2394 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Acute hepatic steatosis,... |
OMIM:210200 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Postnatal growth retardatio... |
ORPHA:254516 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Hypoglycemia, I... |
ORPHA:264580 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Hypoglycemia, Aggressive behavior, Choreoathetosis, Agitation |
OMIM:300438 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, D... |
OMIM:262190 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Postnatal growth r... |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Decreased liver function, Neonatal death, Int... |
OMIM:618839 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Hyperlipidemia, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Dysphagia, Intrauterine growth retarda... |
OMIM:618958 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Severe short stature, Hypertriglyceridemia, Diabetes mellitus, Elevated circu... |
OMIM:617253 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia, Hyperhidrosis |
ORPHA:231147 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Hypoglycemia, Proximal renal tubular acidosis, Hepatomegaly |
OMIM:266150 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hypoglycemia |
ORPHA:664 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... |
ORPHA:79085 |
Laron Syndrome |
|
Hypoplasia of penis, Severe short stature, Hypoglycemia, Hypohidrosis, Delayed puberty, Hyperchol... |
ORPHA:633 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hep... |
OMIM:201475 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Polyphagia, ... |
OMIM:606407 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Lethargy, Hypoketo... |
OMIM:600649 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Athetosis, Gait disturbance, Loss of ambulation |
OMIM:618241 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Short stature,... |
OMIM:616026 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic... |
ORPHA:199296 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypoglycemia, Jaundice, Gait disturbance, Ga... |
ORPHA:79239 |
Mody |
|
Abnormality of the kidney, Transient neonatal diabetes mellitus, Nephropathy, Insulin-resistant d... |
ORPHA:552 |
2P21 Microdeletion Syndrome |
|
Growth delay, Hypoglycemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Unsteady gait, Gait ataxia |
OMIM:618158 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Short stature, Hypoglycemia, Dysmetria, Intrauterine growth retardation |
ORPHA:48431 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Gracile Syndrome |
|
Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Intrauterine... |
ORPHA:53693 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:617950 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Gr... |
ORPHA:95619 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ketotic hypogly... |
ORPHA:79240 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia |
OMIM:618838 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Primary hypothyroidism... |
ORPHA:300536 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Ataxia, Hypoglycemia, Lethargy, Pancreatitis |
OMIM:248600 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria |
ORPHA:289504 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Lethargy, Hepat... |
OMIM:212138 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin res... |
OMIM:615381 |
Glycogen Storage Disease Ixd |
|
Increased muscle glycogen content, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... |
ORPHA:209902 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Growth delay, ... |
ORPHA:445038 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Proteinuria, Hypoglycemia, Pancreatic... |
OMIM:232220 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Sev... |
ORPHA:73272 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Short stature, Hypoglycemia, Hyperhidrosis |
ORPHA:231137 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Lethargy |
OMIM:616483 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr... |
ORPHA:435651 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Growth delay, Steatorrhea... |
ORPHA:71 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue urine, ... |
ORPHA:94086 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Ataxia, Postnatal growth retardation, Central hypothyroidism, Type I... |
OMIM:616113 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Inability to walk, Decreased liver function, Dysphagia, Hepatic steatosis |
ORPHA:70472 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Repetitive compulsive behavior, Micro... |
ORPHA:66634 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... |
OMIM:251880 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Broad-based gait, Elevated circulating alanine aminotransferase concentration, Hepa... |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r... |
ORPHA:79083 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Hypoglycemia, Congenital hypothyroidism |
OMIM:614736 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Short stature, Reduced circulating prolactin concentration, Panhypopituitarism, Hypoglycemic seiz... |
OMIM:262600 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Short stature, Hypoglycemia, Hyperglycin... |
OMIM:606054 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Postnatal growth retardation, Central hypothyroidism, Type II diabetes mell... |
ORPHA:453533 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hepatic steatosis |
OMIM:615918 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Short stature, Ataxia, Pancreatic fibrosis, P... |
OMIM:616263 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep... |
ORPHA:228305 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Inability to walk,... |
ORPHA:26791 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... |
ORPHA:101330 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... |
OMIM:246450 |
Malonyl-Coa Decarboxylase Deficiency |
|
Elevated urine suberic acid level, Short stature, Methylmalonic aciduria, Hypoglycemia |
OMIM:248360 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality o... |
OMIM:180860 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Hypertriglyceridemia, Shor... |
OMIM:203800 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Choreoathetosis, Dysphagia, Loss of ambulation, Abnormal concentratio... |
ORPHA:391428 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Hepa... |
ORPHA:977 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi... |
ORPHA:2348 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerst... |
OMIM:251000 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Dysmetria, Athetosis, Intraute... |
OMIM:617710 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Microvesicular hepat... |
OMIM:617156 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirr... |
ORPHA:528 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia, Hyperhidrosis |
OMIM:618905 |
Donohue Syndrome |
|
Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hy... |
OMIM:246200 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol, Hypoglycemia, Hepatomegaly |
OMIM:229700 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Nonketotic hypoglycemia, Hypoglycemia... |
OMIM:608836 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran... |
OMIM:227810 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Truncal ataxia, Renal hypoplasia, Gait ataxia, Growth delay, Recurrent hypoglycemi... |
OMIM:616817 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hepatomegaly, Ren... |
ORPHA:412 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Hepatic steatosis, Renal hypoplasia |
OMIM:615996 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Hypoglycemia, Postnatal growth retardation, Microphallus, Attention deficit hyperact... |
ORPHA:397590 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... |
ORPHA:435660 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... |
OMIM:615751 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Hyperlipidemia, Red-brown urine, Renal ... |
ORPHA:228308 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Adrenocorticotr... |
ORPHA:199299 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal ... |
ORPHA:391408 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hypoglycemia, Dysphagia, Loss of ambulation, Intrauterine growth retardation |
OMIM:618253 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fi... |
ORPHA:79259 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, R... |
ORPHA:436271 |
Pyridoxine-Dependent Epilepsy |
|
Restlessness, Hypoglycemia |
ORPHA:3006 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Short stature, Elevated circulating as... |
OMIM:614921 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Renal insufficiency, Recurr... |
OMIM:619487 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Ataxia, Microno... |
ORPHA:98907 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:619418 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, 3-Methylglutaconic aciduria, Hypoglycemia |
OMIM:614739 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperactivity, Hypospadias, Hyperlipidemia, Self-injurious behavior, Intrauter... |
ORPHA:254346 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, ... |
OMIM:618641 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa... |
ORPHA:699 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hepatocellula... |
OMIM:232240 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Growth delay, Hype... |
OMIM:615453 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Hypoglycemia, Anorexia, Agitation, Oral aversion, Hyperglycemia |
ORPHA:134 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... |
OMIM:605814 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Attention deficit hyperactivity disorder, Hepatic steatosis, Penile freckling |
ORPHA:210548 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypoglycemia, Fasting hy... |
ORPHA:348 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... |
OMIM:229600 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Short stature, Increased urinary glycerol, Hypoglycemia, Chronic pancreatit... |
OMIM:307030 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function |
OMIM:615160 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Recurrent myoglobinu... |
OMIM:620300 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia |
OMIM:615962 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Hypoglycemia, Oral-pharyngeal dysphagia, Gait a... |
OMIM:616878 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Recurrent urinary tract infections, Ketotic hypoglycemia, A... |
ORPHA:361 |
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 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hepatic steatosis, Urinary bladder sphincter dysfunction, Short stature |
ORPHA:52430 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Difficulty walking, Truncal ataxia, H... |
ORPHA:369840 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Growth delay, Choreoathetosis, 3-Methylglutaconic aciduria, Intrauterine grow... |
OMIM:616271 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Short statu... |
ORPHA:98908 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Agitation, Ataxia, Neonatal hypoglycemia |
OMIM:619046 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:151660 |
Pituitary Apoplexy |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ... |
ORPHA:95613 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Elevated hepatic tr... |
ORPHA:20 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat... |
OMIM:277900 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... |
ORPHA:157 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Ataxia, Proteinuria, Renal tubular dysfunction, Glycosuria, Amin... |
OMIM:220110 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Choreoathetosis |
OMIM:231670 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:202200 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Arima Syndrome |
|
Hepatomegaly, Ataxia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Growth delay, Hematu... |
OMIM:243910 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Oliguria, Fasting hypoglycemi... |
ORPHA:159 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Hypoglycemia, Aggressive behavior, Unst... |
ORPHA:17 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Short stature, Hypoglycemia, Delayed puberty, Hypothyroidism |
ORPHA:95496 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Hypoglyc... |
OMIM:276700 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Proteinuria, Dysmetria, R... |
OMIM:212065 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Ataxia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosi... |
OMIM:124000 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia,... |
ORPHA:480864 |
Leigh Syndrome |
|
Ataxia, Hypoglycemia, Dysphagia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduri... |
ORPHA:506 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Insulin resistan... |
OMIM:613327 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:617049 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia, Gait ataxia |
OMIM:616355 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypoglycemia |
ORPHA:79096 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Chron... |
ORPHA:469 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypertri... |
OMIM:608594 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Ataxia, Hepatic steatosis |
OMIM:275630 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Renal insufficiency, Hypoglycemia, Salt craving, Anorexia, ... |
ORPHA:95409 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hypoglycemia |
OMIM:240200 |
D-Glyceric Aciduria |
|
Hypoglycemia, Tongue thrusting, Growth delay, Aminoaciduria, Micropenis |
OMIM:220120 |
Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Postnatal growth retardation, Micronodular cirrhosis, Chol... |
OMIM:207800 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Cholestasis, Tip-toe gait, Lethargy, Chronic hepat... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:614702 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... |
OMIM:615486 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic acidu... |
ORPHA:99901 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... |
OMIM:609015 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Ataxia, Hypoglycemia |
ORPHA:95428 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnormal repeti... |
OMIM:617600 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Urin... |
ORPHA:2126 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Ataxia, Hypoglycemia, Proximal tubulopathy, Intrauterine growth ... |
ORPHA:2609 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hepatosplenomegaly, Hepatic fibrosis, Hepati... |
ORPHA:79322 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Lethargy |
OMIM:210210 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... |
OMIM:618329 |
Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Short stature, Hypospa... |
ORPHA:2959 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia, Hepat... |
OMIM:269700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Short stature, Ataxia, Inability to w... |
OMIM:615356 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Short stature, Hypoglycemia, Elevated circulating aspartate ami... |
OMIM:608779 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Lacticaciduria, Growth delay, Tip-toe gait, Compuls... |
ORPHA:3008 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Anorexia, R... |
ORPHA:85138 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, I... |
OMIM:131100 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Rabson-Mendenhall Syndrome |
|
Short stature, Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinem... |
ORPHA:769 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Homocystinuria, Pancreatitis |
OMIM:236200 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Renal salt w... |
ORPHA:275761 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Hepatomegaly, Ataxia, Dysmetr... |
ORPHA:14 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating free fatty acid level, Jaundic... |
ORPHA:26793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
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Hypoglycemia, Aminoaciduria, Neonatal death, Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:619055 |
Insulin-Resistance Syndrome Type B |
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Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H... |
ORPHA:2298 |
Mirage Syndrome |
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Recurrent urinary tract infections, Short stature, Hypospadias, Hypoglycemia, Adrenal insufficien... |
OMIM:617053 |
Immunodeficiency, Common Variable, 10 |
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Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation test |
OMIM:615577 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis, Dysphagia |
ORPHA:298 |
Bachmann-Bupp Syndrome |
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Hypoglycemia, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619075 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Ataxia, Hypoglycemia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repe... |
ORPHA:457279 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Hypospadias, Decreased response to growth hormone stimulation test, Postnatal growth retardation,... |
ORPHA:96182 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Pituitary dwarfism, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced ... |
ORPHA:226307 |
Aica-Ribosuria Due To Atic Deficiency |
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Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
Silver-Russell Syndrome |
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Short stature, Hypospadias, Postnatal growth retardation, Insulin resistance, Hyperhidrosis, Recu... |
ORPHA:813 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatic ... |
ORPHA:280365 |
Aromatase Deficiency |
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Hyperlipidemia, Insulin resistance, Growth delay, Type II diabetes mellitus, Hepatic steatosis |
ORPHA:91 |
Leprechaunism |
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Hepatomegaly, Postnatal growth retardation, Insulin resistance, Long penis, Hyperinsulinemia, Hyp... |
ORPHA:508 |
Congenital Disorder Of Glycosylation, Type Ig |
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Rhizomelia, Hypospadias, Hypoglycemia, Lethargy, Micropenis |
OMIM:607143 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Short stature, Hypoglycemia, Nephrocalcinosis, Intrauterine growth retardation, Hypothyroidism |
OMIM:618005 |
Tenorio Syndrome |
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Enuresis, Gait disturbance, Hypoinsulinemia, Hypoglycemia |
OMIM:616260 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Ataxia, Aggressive behavior, Dysmetria, Athetosis, Difficulty walking, Dysphagia, Intrauterine gr... |
ORPHA:572798 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hypertriglyceridemia, Ke... |
ORPHA:247598 |
Timothy Syndrome |
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Hypothyroidism, Hypoglycemia |
OMIM:601005 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
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Hyperactivity, Neonatal hypoglycemia, Gait disturbance, Hypospadias |
ORPHA:457485 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... |
OMIM:614300 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Nephrotic syndrome, Focal segmental g... |
OMIM:617303 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... |
ORPHA:168558 |
Shashi-Pena Syndrome |
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Intrauterine growth retardation, Hypoglycemia, Unilateral renal agenesis |
OMIM:617190 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Adr... |
ORPHA:90791 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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3-hydroxydicarboxylic aciduria, Hepatomegaly, Ataxia, Hypospadias, Hypoglycemia, Splenomegaly, La... |
OMIM:252010 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Hypoglycemia, Hemolytic-uremic syndrome, ... |
ORPHA:79282 |
Smith-Kingsmore Syndrome |
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Rhizomelia, Hypoglycemia |
OMIM:616638 |
Immunodeficiency 40 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Renal salt ... |
ORPHA:289548 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Ataxia, Glutaric aciduria, Chronic kidney disease, Athetosis, Fasting hypoglycemia, Dysphagia |
ORPHA:25 |
Monosomy 13Q34 |
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Growth delay, Fetal pyelectasis, Insulin resistance, Hepatic steatosis |
ORPHA:96168 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, 3-Methylglutaconic aciduria, Gait disturbance, T... |
OMIM:619259 |
Pituitary Hormone Deficiency, Combined, 6 |
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Short stature, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Shigellosis |
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Hypoglycemia, Anorexia, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Cholestasis, Hepatic ... |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Deeah Syndrome |
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Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Hypohidrosis,... |
OMIM:619004 |
Cholera |
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Abnormality of renal excretion, Hypoglycemia, Lethargy, Acute kidney injury, Decreased urine output |
ORPHA:173 |
Osteootohepatoenteric Syndrome |
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Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Porta... |
OMIM:619377 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Loss of ambulation, Intrauterine growth retardation, Tip-toe gait, Neonatal hypoglycemia |
ORPHA:565624 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Decreased circulating cortisol level, Hypoglycemia, Jaundice |
ORPHA:90790 |
Congenital Disorder Of Glycosylation, Type Im |
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Hypoketotic hypoglycemia, Increased circulating free fatty acid level |
OMIM:610768 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
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Intrauterine growth retardation, Hypoglycemia |
OMIM:620275 |
Dopamine Beta-Hydroxylase Deficiency |
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Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia |
ORPHA:230 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
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Hypoglycemia, Inability to walk by childhood/adolescence, Choreoathetosis, Athetosis, Micropenis |
OMIM:620224 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Short stature, Decreased response to growth hormone stimulation test, Hypoglycemia, Growth delay,... |
OMIM:616007 |
Immunodeficiency 59 And Hypoglycemia |
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Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia |
OMIM:233600 |
3-Methylglutaconic Aciduria, Type Viii |
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Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Dysphagia, Neonat... |
OMIM:617248 |
Orthostatic Hypotension 1 |
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Neonatal hypoglycemia, Nocturia, Reduced circulating prolactin concentration |
OMIM:223360 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Hepatic steatosis, Restri... |
OMIM:619475 |
Sotos Syndrome |
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Abnormality of the kidney, Aggressive behavior, Glucose intolerance, Attention deficit hyperactiv... |
OMIM:117550 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Microvesicu... |
OMIM:203700 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Recurrent urinary tract infections, Short stature, Hypoglycemia, P... |
OMIM:613658 |
X-Linked Dominant Chondrodysplasia Punctata |
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Severe postnatal growth retardation, Short stature, Hydronephrosis, Neonatal hypoglycemia |
ORPHA:35173 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Increased circulating cortisol level, Decreased circulating ald... |
ORPHA:786 |
Non-Acquired Panhypopituitarism |
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Pituitary dwarfism, Short stature, Decreased response to growth hormone stimulation test, Hypogly... |
ORPHA:90695 |
Acute Liver Failure |
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Elevated hepatic transaminase, Ataxia, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepat... |
ORPHA:90062 |
Cimdag Syndrome |
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Microvesicular hepatic steatosis, Ataxia, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation, Hyperglycemia, Pancreati... |
OMIM:609069 |
Bloom Syndrome |
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Postnatal growth retardation, Growth delay, Type II diabetes mellitus, Intrauterine growth retard... |
OMIM:210900 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99413 |
Turner Syndrome |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:881 |
Mosaic Monosomy X |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99228 |
Monosomy X |
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Ectopic kidney, Glucose intolerance, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, ... |
ORPHA:99226 |
Neurooculorenal Syndrome |
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Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Postn... |
OMIM:620305 |
Basilicata-Akhtar Syndrome |
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Neonatal hypoglycemia |
OMIM:301032 |
Smith-Lemli-Opitz Syndrome |
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Renal cyst, Hypocholesterolemia, Micropenis, Hepatic steatosis, Self-mutilation, Penoscrotal hypo... |
OMIM:270400 |
Kabuki Syndrome 2 |
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Short stature, Postnatal growth retardation, Horseshoe kidney, Intrauterine growth retardation, N... |
OMIM:300867 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
OMIM:619573 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Proteinuria, Po... |
OMIM:619127 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Hypoglycemia, Aggressive behavior, Hepatosplenomegaly, Cholecystitis, Cholelithiasi... |
OMIM:301066 |
Liver Disease, Severe Congenital |
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Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... |
OMIM:619991 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Inability... |
ORPHA:404454 |
1P36 Deletion Syndrome |
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Hepatic steatosis, Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the kidney, Ab... |
ORPHA:1606 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Ataxia, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesic... |
OMIM:220111 |
Holoprosencephaly |
|
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Abnormality of the spleen, Abn... |
ORPHA:2162 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ataxia, Gait disturbance, Hypoglycemia |
ORPHA:2710 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence, Attention deficit hyper... |
OMIM:619934 |
Alg12-Cdg |
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Elevated hepatic transaminase, Hypospadias, Recurrent hypoglycemia, Hypocholesterolemia, Intraute... |
ORPHA:79324 |
Perlman Syndrome |
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Nephrogenic rest, Hypoglycemia, Renal hamartoma, Nephroblastomatosis, Pancreatic islet-cell hyper... |
OMIM:267000 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Thyr... |
ORPHA:293978 |
Atypical Werner Syndrome |
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Renal neoplasm, Hypertriglyceridemia, Short stature, Diabetes mellitus, Insulin-resistant diabete... |
ORPHA:79474 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Hypoglycemia, Hepatoblastoma, Neonatal hypoglycemia, Splenome... |
ORPHA:116 |
Cerebral Visual Impairment |
|
Attention deficit hyperactivity disorder, Neonatal hypoglycemia |
ORPHA:447788 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatic steatosis, Hepatomegaly, Splenomegaly, Hepatitis, Nephrotic syndrome, Intrauterine growth... |
OMIM:615846 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Short stature, Hashimoto thyroiditis, Hypoglycemia |
ORPHA:109 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Hypoglycemia, Renal cyst, Hepatomegaly |
ORPHA:137675 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... |
ORPHA:64 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Hypoglycemia, Anorexia, Aggressive behavior, ... |
ORPHA:99826 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Short stature, Decreased response to gr... |
ORPHA:3455 |
Ogden Syndrome |
|
Global glomerulosclerosis, Short stature, Maternal diabetes, Postnatal growth retardation, Microv... |
OMIM:300855 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Menkes Disease |
|
Intrauterine growth retardation, Bladder diverticulum, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Short stature, Neonatal hypoglycemia, Renal salt wasting, L... |
ORPHA:90794 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitar... |
ORPHA:95494 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Decreased response to growth hormone stimulation test, Unilateral renal agenesi... |
OMIM:619503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Microvesicular hepatic s... |
OMIM:300868 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Neonatal hypoglycemia, Pancreatic hyperplasia, Nephrolithiasis, Ren... |
OMIM:130650 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Renal hypoplasia, Intrauterine growth retardation, Micropenis, Hepatic steatosis |
OMIM:619321 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Digeorge Syndrome |
|
Renal dysplasia, Hepatic steatosis, Renal insufficiency, Short stature, Unilateral renal agenesis... |
OMIM:188400 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis |
OMIM:618278 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Micropenis, Neonatal hypoglycemia, Difficulty walking, Gait ataxia |
ORPHA:457359 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Horseshoe... |
OMIM:201750 |
Costello Syndrome |
|
Renal insufficiency, Short stature, Hypoglycemia |
OMIM:218040 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia, Enlarged kidney |
OMIM:261740 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Renal artery stenosis, Hypercholesterolemia, Hepatic steatosis |
ORPHA:391665 |
Holoprosencephaly 1 |
|
Micropenis, Short stature, Hypoglycemia |
OMIM:236100 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |