Gene: Acadl MGI:87866

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

acyl-Coenzyme A dehydrogenase, long-chain

Synonyms:

C79855, LCAD

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Acadl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Acadl (0 diseases)
Human diseases predicted to be associated with Acadl (529 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Acadl by phenotypic similarity.

Disease	Matching phenotypes	Source
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlipidemia, Increased ...	OMIM:232700
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hypog...	ORPHA:369
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat...	OMIM:615703
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem...	ORPHA:293964
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra...	OMIM:619386
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis	OMIM:261650
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Increased level of methylsuccin...	ORPHA:26792
D-Glyceric Aciduria	Hyperglycinuria, Increased circulating free fatty acid level, Abnormal circulating enzyme concent...	ORPHA:941
Propionic Acidemia	Organic aciduria, Hypoglycemia, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Hyperammone...	ORPHA:35
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertriglyceridemia	ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary am...	OMIM:612526
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Oligomenorrhea, Hypertriglyceridemia, Infe...	ORPHA:280356
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration...	ORPHA:228305
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Fanconi-Bickel Syndrome	Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ...	ORPHA:2088
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Recu...	OMIM:620357
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce...	OMIM:231530
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ...	OMIM:617872
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrhea, Hyper...	OMIM:613877
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Irregular m...	ORPHA:264580
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Hemochromatosis, Type 4	Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hep...	OMIM:606069
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hyperins...	ORPHA:79237
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Recurrent hypoglycemia, Hypertroph...	OMIM:212140
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Rena...	OMIM:261680
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop...	ORPHA:156
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran...	ORPHA:228308
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G...	ORPHA:2089
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Hypoglycemia	OMIM:262400
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci...	OMIM:212138
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis, Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Atrial septal defect, Hypog...	OMIM:620211
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Hypogonadism, Partial atrioventricular canal defect, He...	OMIM:615996
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Patent Ductus Venosus	Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function	OMIM:601466
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptid...	OMIM:615238
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegal...	ORPHA:79083
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function	ORPHA:67048
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Oligomenorrhea, Hyper...	ORPHA:79085
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Hypoglycemia, Di...	ORPHA:289504
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Elevated circulating tetradecanoylcarnitine co...	OMIM:619355
Congenital Generalized Lipodystrophy	Insulin resistance, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepatic steatosis, Amenorrhea,...	ORPHA:528
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Decreased circulating c...	ORPHA:79159
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating hepatic transaminase concentration...	ORPHA:69663
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli...	ORPHA:2457
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperalani...	OMIM:617950
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia,...	OMIM:210200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276575
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Hypoketotic hypoglycemia	OMIM:610768
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Seckel Syndrome 10	Insulin resistance, Ventricular hypertrophy, Glycosuria, Elevated circulating aspartate aminotran...	OMIM:617253
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, G...	ORPHA:2348
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath...	ORPHA:157
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ...	ORPHA:209919
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Abnormal circulating selenium concentratio...	ORPHA:171706
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatom...	ORPHA:363400
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph...	ORPHA:276580
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, E...	ORPHA:26791
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death	OMIM:615918
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti...	ORPHA:263455
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Secundum atrial septal defect, Elevated circulating S-adenos...	OMIM:614300
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia	OMIM:606528
Acquired Generalized Lipodystrophy	Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Abnormal circulating lip...	ORPHA:79086
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Elevated circulating ...	OMIM:227810
Cidec-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis, Oligomenorrhea, Hypertrigly...	ORPHA:435651
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating al...	OMIM:618805
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Cardiomyopathy, Decreased liver function, Neonatal death, Elevated circulating crea...	OMIM:618839
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Elevated circulating h...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Elevated cir...	OMIM:618835
Mitochondrial Trifunctional Protein Deficiency 2	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati...	OMIM:620300
Endocardial Fibroelastosis	Endocardial fibroelastosis, Hypoplasia of penis, Restrictive cardiomyopathy, Hypoglycemia	ORPHA:2022
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Elevated circulating aspartate aminotransferas...	OMIM:610198
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Elevated circulating ...	ORPHA:435660
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal circul...	ORPHA:70472
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abnormal ...	ORPHA:79239
Cerebral Creatine Deficiency Syndrome 3	Reduced tissue arginine:glycine amidinotransferase activity, Organic aciduria	OMIM:612718
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration,...	OMIM:300559
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrati...	OMIM:245400
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Acth Deficiency, Isolated	Cholestasis, Jaundice, Fasting hypoglycemia, Decreased circulating cortisol level	OMIM:201400
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa...	OMIM:616483
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr...	ORPHA:53693
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Redu...	OMIM:246450
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase con...	ORPHA:416
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Decreased liver fu...	OMIM:230400
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Cardiomyopathy, Hypoglycemia, Propion...	OMIM:606054
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl...	OMIM:617575
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Short Stature Due To Ghsr Deficiency	Hypoglycemia	ORPHA:314811
2P21 Microdeletion Syndrome	Hypoglycemia, Hypogonadism, Hypocalcemia, Nephrolithiasis, Cystinuria	ORPHA:163693
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr...	OMIM:266150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin...	OMIM:124000
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia, Met...	OMIM:251110
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Dilated cardiomyopathy, Methylmalonic aciduria, Hypoglycemia, ...	OMIM:248360
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232220
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hyperammonemia, Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia	ORPHA:6
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hepatitis, Hyponatremia, Decreased circulating cortisol level, Prolonged n...	ORPHA:199296
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi...	OMIM:614922
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Acute hepatic...	OMIM:618641
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy	OMIM:618234
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Reduced cystathioni...	OMIM:236200
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:615595
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, He...	ORPHA:412
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Dicarboxylic Aminoaciduria	Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Hyperoxaluria, Primary, Type Ii	Reduced hepatic glyoxylate reductase activity, Nephrocalcinosis, Hyperoxaluria, Renal insufficien...	OMIM:260000
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Elevated circulating asparta...	OMIM:620609
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Transient aminoaciduria, Glycosuria, Hyp...	OMIM:229600
Ddost-Cdg	Nephrotic range proteinuria, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:300536
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	ORPHA:436271
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu...	ORPHA:35878
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Interstitial Lung And Liver Disease	Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatic fibrosis, Chole...	OMIM:615486
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Increased circulating cortisol level, Hyperaldosteronism, Increased urina...	ORPHA:189427
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyp...	OMIM:617049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Irregular menstruation...	ORPHA:79259
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia	OMIM:618958
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hyperinsuli...	OMIM:269700
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi...	OMIM:212065
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ...	ORPHA:445038
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating al...	ORPHA:52430
Blue Diaper Syndrome	Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase c...	ORPHA:94086
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Abnorm...	ORPHA:905
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperglycin...	OMIM:251000
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy...	OMIM:276700
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circu...	OMIM:618120
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Alstrom Syndrome	Irregular menstruation, Nephritis, Dilated cardiomyopathy, Elevated circulating hepatic transamin...	OMIM:203800
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Abnormal heart morphology, Hypoglycemia	ORPHA:231147
Metachromatic Leukodystrophy	Urinary incontinence, Gallbladder dysfunction, Reduced leukocyte arylsulfatase A activity, Cholec...	OMIM:250100
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperinsulinemia, Hepati...	OMIM:608594
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H...	ORPHA:5
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Organic aciduria, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Hypospadias, Hypoglycemia	OMIM:201910
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Mehmo Syndrome	Micropenis, Male hypogonadism, Hypoglycemia	OMIM:300148
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat...	OMIM:300555
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hypoglycemia, ...	OMIM:256810
Somatostatinoma	Intrahepatic cholestasis, Increased circulating cortisol level, Hypercalcemia, Neoplasm of the pa...	ORPHA:97283
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Elevated circulating glutaric acid concentration, Hypoglycemia, Hep...	OMIM:231670
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating h...	OMIM:619487
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine k...	OMIM:618838
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Aminoaciduria, Elevated circulating hepatic tran...	OMIM:613404
Mody	Nephropathy, Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes m...	ORPHA:552
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration	OMIM:300438
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Ketonuria, Hypoglycemia, Acute hepatic f...	OMIM:615453
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia	OMIM:610090
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula...	ORPHA:66634
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis, Ventricular septal defect, Atrial septal defect, Hypospadias	ORPHA:254346
Aromatase Deficiency	Insulin resistance, Female infertility, Type II diabetes mellitus, Hyperlipidemia, Hepatic steato...	ORPHA:91
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	OMIM:220110
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity,...	ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 35	Cardiomyopathy, Neonatal death, Hyperprolinemia, Hyperalaninemia, Lacticaciduria, Elevated urinar...	OMIM:619003
Laron Syndrome	Hypoplasia of penis, Hypercholesterolemia, Hypoglycemia	ORPHA:633
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Sp...	OMIM:613327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy, Splenom...	ORPHA:280365
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia	OMIM:620137
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Neonatal hypoglycemia, Microphallus	ORPHA:631
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericar...	OMIM:614702
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo...	OMIM:210210
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoplastic spleen, Abnormal heart morphology,...	ORPHA:699
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Hypoglycemia, Xanthelasma, Decreased glomerular filtration ra...	OMIM:232240
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal...	ORPHA:275761
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Hepatic steatosis	ORPHA:210548
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Splenomegaly,...	ORPHA:2137
Glucocorticoid Resistance, Generalized	Irregular menstruation, Infertility, Increased circulating cortisol level, Hypoglycemia	OMIM:615962
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia	OMIM:614736
Monosomy 13Q34	Insulin resistance, Hypercalcemia, Hepatic steatosis, Metrorrhagia, Common atrium, Fetal pyelecta...	ORPHA:96168
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Dilated cardi...	ORPHA:20
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Ketotic hypoglycemia, Hyperal...	OMIM:620646
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg...	OMIM:262190
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cirrhosis...	ORPHA:298
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Cholestasis, E...	OMIM:619573
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Hypertrophic cardiomyopathy, Organic aciduria, Neonatal death	OMIM:617184
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Hyperprolinemia, Increased serum pyruvate, Hyperalaninemia, Neonata...	OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia	OMIM:618241
Leigh Syndrome	Generalized aminoaciduria, Hepatic failure, Methylmalonic aciduria, Hypoglycemia, Hypertrophic ca...	ORPHA:506
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reduced tissue fructose-1,6-bisphosphatase activity, Hypoglycemia, Increased urinar...	OMIM:229700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Abnormal renal collecting system morphol...	ORPHA:17
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Cholestasis, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepatic failure, Lef...	ORPHA:746
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Generalized aminoaciduria, Chronic kidney disease, Hypouricemia, Decreas...	ORPHA:3337
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Grade II vesico...	OMIM:619377
Lysinuric Protein Intolerance	Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Glomerul...	ORPHA:470
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia	ORPHA:2158
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Decreased liver function, Hypoglycemia, Elevated circulating aspar...	OMIM:608779
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Congenital Macroglossia	Abnormal hepatic glycogen storage	ORPHA:2430
Proprotein Convertase 1/3 Deficiency	Reactive hypoglycemia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Prima...	OMIM:600955
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	3-Methylglutaconic aciduria, Hyperalaninemia, Hyperammonemia, Hypoglycemia	OMIM:614739
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Hypocalcemia, Nephrolithiasis, Cystinuria, Neonatal hypoglycemia, Hypergona...	OMIM:606407
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot...	ORPHA:14
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent...	ORPHA:79096
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Nephritis, Biliary cirrhosis, Hypotriglyceridemia...	ORPHA:2298
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Neonatal hypoglycemia, Hypoglycemia	ORPHA:231140
Solitary Fibrous Tumor	Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of th...	ORPHA:2126
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Adrenomyodystrophy	Abnormality of the urinary system, Hepatic steatosis, Megacystis	ORPHA:977
Glycogen Storage Disease Xii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch...	OMIM:611881
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Cholecys...	OMIM:266200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Cholecystitis, Sp...	OMIM:613470
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Long penis, Cholestasis, Hyperglycemia, Hyperinsuli...	OMIM:246200
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep...	ORPHA:2959
Familial Glucocorticoid Deficiency	Hypernatriuria, Recurrent urinary tract infections, Hypertrophic cardiomyopathy, Azoospermia, Hyp...	ORPHA:361
Timothy Syndrome	Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect,...	OMIM:601005
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Late-Onset Isolated Acth Deficiency	Type I diabetes mellitus, Hepatitis, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circula...	ORPHA:199299
D-Glyceric Aciduria	Aminoaciduria, Hypoglycemia, Reduced hepatic D-glycerate kinase activity, Micropenis, Elevated ci...	OMIM:220120
Pyruvate Dehydrogenase Phosphatase Deficiency	Hyperprolinemia, Hyperalaninemia, Lacticaciduria	ORPHA:79246
Silver-Russell Syndrome 1	Abnormality of the ureter, Nephroblastoma, Fasting hypoglycemia, Urethral valve, Hypospadias, Con...	OMIM:180860
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-ribo...	OMIM:608688
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced erythrocyte hexokinase a...	OMIM:235700
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Hypertrophic cardiomyopathy, Sple...	OMIM:617303
Insulinoma	Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hype...	ORPHA:97279
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Type I diabetes mellitus, Elevated circulating hepatic ...	OMIM:619525
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating pal...	ORPHA:79282
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperuricemia, Hepatomegaly	ORPHA:134
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Glucocorticoid Deficiency 3	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:609197
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff...	ORPHA:469
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Bardet-Biedl Syndrome	Chronic kidney disease, Type II diabetes mellitus, Hepatic steatosis, Nephrotic syndrome, Irregul...	ORPHA:110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria, Hepatomegaly	OMIM:604273
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat...	OMIM:616433
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Patent foramen ovale, Neonatal...	OMIM:619167
Shigellosis	Hepatic failure, Acute kidney injury, Hypoglycemia, Cholestasis, Urethritis, Hyponatremia, Perito...	ORPHA:810
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Hypoglycemia	ORPHA:95428
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa...	OMIM:261515
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype...	ORPHA:3008
Igg4-Related Kidney Disease	Chronic kidney disease, Abnormal mesentery morphology, Urethritis, Hematuria, Prostatitis, Tubulo...	ORPHA:449395
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Organic aciduria, Abnormal circulating carnitine c...	ORPHA:431361
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Eleva...	ORPHA:69665
Immunodeficiency 10	Hypoglycemia, Recurrent urinary tract infections, Splenomegaly, Hepatomegaly, Nephrotic syndrome	OMIM:612783
Triploidy	Abnormality of the gallbladder, Abnormal cardiac septum morphology, Hepatomegaly, Hypoplasia of p...	ORPHA:3376
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Hepatic steatosis, 3-Methylglutaconic aciduria	OMIM:616271
Isolated Complex I Deficiency	Proximal tubulopathy, Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Increased serum py...	ORPHA:2609
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Hypoglycemia, Recurrent hypoglycemia	OMIM:607398
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopath...	OMIM:252010
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo...	ORPHA:781
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia	ORPHA:90790
Glycerol Kinase Deficiency	Hypoglycemia, Increased urinary glycerol, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycer...	OMIM:307030
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Gluc...	OMIM:619127
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Hyperammonemia, Hypoglycemia	OMIM:618253
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Infertility, Hypoglycemia, Amenorrhea	ORPHA:95619
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Recurrent hypoglycemia	OMIM:202200
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula...	OMIM:223360
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ...	OMIM:203700
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hypoglycemia	ORPHA:231137
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Hypoglycemia, Hypogonadism	ORPHA:73272
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hyperammonemia, Hyperargini...	OMIM:207800
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis	OMIM:619273
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Abno...	ORPHA:2075
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Cardiomyopathy	OMIM:617710
Gaisböck Syndrome	Nephrocalcinosis, Hypernatriuria, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hypertrigly...	ORPHA:90041
Alg12-Cdg	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia,...	ORPHA:79324
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Acute Adrenal Insufficiency	Hypoglycemia, Renal insufficiency, Decreased female libido, Hyperuricemia, Hyponatremia, Decrease...	ORPHA:95409
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Hypoglycemia, Neonatal death, Elevated circulating creatine kinas...	OMIM:619055
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Hyperglycemia, Partial atrioventricular canal defect, Hyp...	OMIM:620423
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Cholecystitis, Intermittent jau...	ORPHA:100086
Sheehan Syndrome	Hypoglycemia, Decreased female libido, Hyponatremia, Decreased circulating cortisol level, Amenor...	ORPHA:91355
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Lacticaciduria	OMIM:619063
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Azoospermia, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hyposp...	ORPHA:90791
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormalit...	ORPHA:887
Mirage Syndrome	Microphallus, Hypoglycemia, Recurrent urinary tract infections, Hyponatremia, Hypoplastic spleen,...	OMIM:617053
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Glycosuria, Insulin-resistant diabetes mellitu...	ORPHA:79474
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S...	OMIM:620367
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Hyperaldosteronism,...	ORPHA:508
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypoglycemia	ORPHA:391408
Sotos Syndrome	Muscular ventricular septal defect, Glucose intolerance, Ventricular septal defect, Atrial septal...	OMIM:117550
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Hypoglycemia	OMIM:618182
Combined Oxidative Phosphorylation Deficiency 58	Hypoglycemia, Elevated circulating alkaline phosphatase concentration, Hyperprolinemia, Hyperalan...	OMIM:620451
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:557000
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, H...	OMIM:605711
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspi...	ORPHA:457279
Generalized Glucocorticoid Resistance Syndrome	Increased circulating cortisol level, Hypoglycemia, Increased urinary cortisol level, Hypokalemia...	ORPHA:786
Shashi-Pena Syndrome	Unilateral renal agenesis, Atrial septal defect, Hypoglycemia	OMIM:617190
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, ...	OMIM:251100
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
Congenital Disorder Of Glycosylation, Type Ig	Hypoglycemia, Hypocalcemia, Patent foramen ovale, Micropenis, Hypospadias	OMIM:607143
Pituitary Apoplexy	Increased circulating cortisol level, Hypoglycemia, Hyponatremia, Oligomenorrhea, Impotence, Hype...	ORPHA:95613
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy	OMIM:619053
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia	ORPHA:35708
Silver-Russell Syndrome Due To A Point Mutation	Hypospadias, Microphallus, Hypoglycemia, Dysmenorrhea	ORPHA:397590
Addison Disease	Type I diabetes mellitus, Hypoglycemia, Decreased female libido, Hyperuricemia, Premature ovarian...	ORPHA:85138
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia	ORPHA:254516
Congenital Syphilis	Hypoglycemia, Hepatosplenomegaly, Pancreatitis, Myocarditis, Prolonged neonatal jaundice, Nephrot...	ORPHA:499009
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevate...	OMIM:615356
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Hypoglycemia	OMIM:619075
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collect...	OMIM:270400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Recurrent hypoglycemia	OMIM:616817
Bloom Syndrome	Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Decreased fertility in females, Elevat...	OMIM:210900
Polyendocrine-Polyneuropathy Syndrome	Hypoinsulinemia, Hypogonadotropic hypogonadism, Type II diabetes mellitus, Hypoglycemia	ORPHA:453533
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Oroticaciduria, Hyperammonemia, Hyperglutam...	OMIM:215700
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Hypoplastic left heart, Elevated circulating hepatic...	ORPHA:99226
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ...	OMIM:207900
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Insulin-resistant d...	ORPHA:769
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Splenomegal...	OMIM:615846
Immunodeficiency 59 And Hypoglycemia	Prolonged neonatal jaundice, Hepatomegaly, Hypoglycemia	OMIM:233600
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Recurrent hypogly...	OMIM:620305
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Hyperammonem...	OMIM:220111
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypoglycemia, Insulinoma, Pancreatic islet cell adenoma, Hy...	OMIM:131100
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Generalized aminoaciduria, Elevated circulating hepati...	ORPHA:404454
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Diabetes melli...	OMIM:609069
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi...	ORPHA:168558
Smith-Kingsmore Syndrome	Hypoglycemia	OMIM:616638
Cholera	Acute kidney injury, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, H...	ORPHA:173
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Hyperkalemi...	ORPHA:289548
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Elevated ...	ORPHA:99826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Vesicoureteral reflux, Elevated circulating alkaline phosphatase co...	OMIM:300868
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypogonadotropic hypogonadism, Hypoglycemia	OMIM:616113
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea...	OMIM:618278
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Ketonuria, Glycosuria	OMIM:618857
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hyperinsuli...	ORPHA:64
Beckwith-Wiedemann Syndrome	Nephropathy, Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insufficiency, Hyper...	ORPHA:116
Mitochondrial Complex I Deficiency, Nuclear Type 29	Abnormal heart morphology, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, Hyperalan...	OMIM:618250
Holoprosencephaly	Abnormality of the urinary system, Hypoglycemia, Tetralogy of Fallot, Abnormality of the spleen, ...	ORPHA:2162
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal de...	ORPHA:2331
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Tenorio Syndrome	Hypoinsulinemia, Enuresis, Hypoglycemia	OMIM:616260
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Methylmalonyl-Coa Epimerase Deficiency	Hyperhomocystinemia, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine...	OMIM:251120
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Cardiomyopathy, Hypoglycemia, Splenomegal...	ORPHA:373
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Splenomegaly, Decreased circulating biotinidase concentration, ...	OMIM:253260
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Pancreatic hypopla...	ORPHA:99885
Brown-Vialetto-Van Laere Syndrome 2	Organic aciduria	OMIM:614707
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Abnormal circulating enzyme concentration or activity,...	ORPHA:25
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc...	ORPHA:90062
Pituitary Hormone Deficiency, Combined, 2	Hypoglycemic seizures, Neonatal hypoglycemia, Hypogonadism	OMIM:262600
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Cholecystitis, Abnormal glycosphingolipid metabolism	ORPHA:309263
Mitochondrial Dna Depletion Syndrome 18	Elevated urinary quinolinic acid level, Lacticaciduria	OMIM:618811
Histiocytoid Cardiomyopathy	Hypoglycemia, Ventricular septal defect, Cardiomegaly, Renal cyst, Hepatomegaly	ORPHA:137675
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts, Elevated urinary...	OMIM:245050
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis, Atrial septal defect, Hypoglycemia	OMIM:618005
Ogden Syndrome	Secundum atrial septal defect, Hyperbilirubinemia, Patent foramen ovale, Ventricular septal defec...	OMIM:300855
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormality of Krebs cycle ...	ORPHA:255210
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Abnormality of the spl...	ORPHA:1606
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl...	OMIM:251900
Triosephosphate Isomerase Deficiency	Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, Reduced holocar...	OMIM:253270
Listeriosis	Acute kidney injury, Pyelonephritis, Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic ...	ORPHA:533
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia	ORPHA:565624
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Glutaric aciduria, Ketonuria, Abnormal circulat...	ORPHA:35706
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Organic aciduria, Abnormal circulating acylcarnitine concentration	OMIM:620191
Kabuki Syndrome 2	Atrioventricular canal defect, Horseshoe kidney, Atrial septal defect, Neonatal hypoglycemia, Pul...	OMIM:300867
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Neoplasm of the gallbladder, Cholecystitis, Abnormal glycosphingolipid meta...	ORPHA:309271
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Cardiomyopathy	ORPHA:572798
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Hypoglycemia, Primary amenorrhea	ORPHA:95496
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Recurrent urinary tract infections, Cholecystitis, Cholangitis, Diabetes mellitu...	ORPHA:183675
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Oculodentodigital Dysplasia	Neurogenic bladder, Hypoglycemia, Ventricular septal defect	ORPHA:2710
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hyperkalemia, Hypernatriuria, Abnormality of the menstrual cycle, Decreased fertility...	ORPHA:90794
Immunodeficiency, Common Variable, 10	Hypoglycemia	OMIM:615577
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Hypospadias	ORPHA:457485
Amish Lethal Microcephaly	Hepatomegaly, Organic aciduria	ORPHA:99742
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Rett Syndrome	Hyperammonemia, Increased serum pyruvate, Cholecystitis	ORPHA:778
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, V...	OMIM:619475
Mitochondrial Complex I Deficiency, Nuclear Type 26	Lacticaciduria	OMIM:618247
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Hepatic steatosis	OMIM:619934
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Jaundice, Neonatal hypogl...	OMIM:617248
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Micropenis, Hypoglycemia	OMIM:620224
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Recurrent urinary tract infections, Wide penis, Type II diabetes mellitus, Hepatic s...	ORPHA:3455
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Hepatic steatosis, Hypoplasia of the ovary, Micropenis, Azotemia	OMIM:619321
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial...	OMIM:261740
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Increased circulating lactate dehydrogenase concentration, Pericardial effusion,...	ORPHA:99827
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Cholecystitis	ORPHA:309256
Silver-Russell Syndrome	Insulin resistance, Abnormality of the urinary system, Hypospadias, Recurrent hypoglycemia	ORPHA:813
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Abnormal heart morphology, Horseshoe kidney, Fasting hypoglycemia, Hypospadia...	ORPHA:96182
Perlman Syndrome	Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, Nephroblastoma, Pancreatic ...	OMIM:267000
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Atrioventricular canal defect, Abn...	ORPHA:818
Scorpion Envenomation	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Glycosuria, Keton...	ORPHA:466677
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Unilateral renal agenesis, Hypomagnesemia, Cholestasis, Mitral atresia, H...	OMIM:619503
Wolf-Hirschhorn Syndrome	Abnormality of the urinary system, Abdominal situs inversus, Abnormal heart valve morphology, Abn...	ORPHA:280
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Bicuspid aortic valve, Hypoglycemia	OMIM:614501
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Tetralogy of Fallot, Renal insufficiency, Splenomegaly...	OMIM:188400
Menkes Disease	Prolonged neonatal jaundice, Bladder diverticulum, Hypoglycemia	ORPHA:565
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia	OMIM:616007
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Neonatal hypoglycemia	ORPHA:35173
D-Lactic Aciduria With Gout	Elevated urine D-lactate level, Lacticaciduria	OMIM:245450
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Organic aciduria	ORPHA:79242
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:226307
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us